HGMD Professional

Exhaustive, expert-curated database of germline mutations underlying inherited human diseases.

What it does

Contains over 575,000 continuously updated mutations; the public version is delayed by three years, making the Pro version essential for labs.

How to use

See https://www.hgmd.cf.ac.uk/ for documentation and access.

STRC usage

NOT TESTED — requires paid professional subscription. Contains 575K+ curated disease mutations. Would need institutional access.

Connections

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