Allele Registry

Canonical Allele Identifier: PA2499253950

Gene: HAP1 HGNC NCBI

ClinVar RCV:

RCV001648107

RCV003984019

ClinVar Variation:

1242257

HGVS (amino-acid)	Matching Registered Transcripts
NP_001354388.1:p.Thr473Met	CA8564376 NM_001367459.1:c.1418C>T