LOVD HGVS variant description syntax checker

Validate the syntax of variant descriptions according to the rules of the HGVS nomenclature. Our tool checks your variant description and, when invalid, tries to correct your description into a valid HGVS-compliant description.

This tool supports a wide range of non-compliant notations as well as alternative formats like VCF and SPDI. Currently, we support 98.5% of all documented DNA-level nomenclature, and some RNA and protein descriptions. We aim to reach 100% support for DNA, RNA, and protein-level variant descriptions. A manuscript is in preparation.

To also validate your variant description on the sequence level, please select the VariantValidator option below the input field. This feature requires you to include a reference sequence in your descriptions.