Mutalyzer

Checks sequence variant nomenclature according to strict, up-to-date HGVS guidelines.

What it does

Ensures that variants identified in legacy literature can be accurately translated and matched against modern reference genome builds.

How to use

See https://mutalyzer.nl/ for documentation and access.

STRC usage

VERIFIED — Successfully validated HGVS: NM_153700.2:c.4976A>C = p.(Glu1659Ala). Nomenclature confirmed correct.

Connections