Allele Registry

Canonical Allele Identifier: PA2825460256

Gene: HAP1 HGNC NCBI

ClinVar RCV:

RCV001648107

RCV003984019

ClinVar Variation:

1242257

HGVS (amino-acid)	Matching Registered Transcripts
NP_001073340.1:p.Thr416Met	CA8564376 NM_001079871.1:c.1247C>T