About the resource
Type of resource: Genetic variant nomenclature software
License/availability: Open source
Website: Click here to view website
User documentation: Click here to view documentation
Mutalyzer checks the HGVS nomenclature of genetic variants, but is also able to convert between genomic, transcript and protein positions, and rsIDs and genome positions. There is a web-interface available to check single variants or to submit batch jobs. Similar functionality is provided by a collection of SOAP and HTTP/RPC+JSON webservices.