Mutalyzer

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

Key Info

• URL: https://mutalyzer.nl/
• Category: Nomenclature
• API: Yes
• Free: Free
• ACMG Relevance: N/A

Why It Matters

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 Research Usage

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

Next Steps

• Test with STRC E1659A variant
• Verify API access
• Document specific results

Connections

• STRC Variant c.4976A>C — Misha [see-also]
• STRC Gene [about]