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The aim of this program suite is to support checks of sequence variant nomenclature according to the guidelines of the Human Genome Variation Society.

Different interfaces are provided to collect the information necessary for the checks:

Name Checker

The Name Checker takes the complete sequence variant description as input and checks whether it is correct.

Example: AB026906.1:c.274G>T

Syntax Checker

The Syntax Checker takes the complete sequence variant description as input and checks whether the syntax is correct.

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Position Converter

The Position Converter can convert chromosomal positions to transcript orientated positions and vice versa.

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SNP Converter

The SNP Converter allows you to convert a dbSNP rsId to HGVS notation.

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Name Generator

The Name Generator is a user friendly interface that helps to make a valid HGVS variant description.

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Description Extractor

The Description Extractor allows you to generate the HGVS variant description from a reference sequence and an observed sequence.

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Reference File Loader

The Reference File Loader allows you to load and use your own reference sequence.

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Batch Checkers

The Batch Checkers are interfaces that accept a list of inputs. These interfaces can be used for large quantities of checks is correct.

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Web services

The Web services page provides instructions for the web services.

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GenBank sequences are retrieved from the NCBI (Copyright and Disclaimers).

This project is sponsored by SUN Microsystems with server hardware within the scope of the Academic Excellence Grant (AEG) program (award EDUD-7832-080223-CNE).

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