Allele Registry

Canonical Allele Identifier: PA2830370559

Gene: HAP1 HGNC NCBI

ClinVar RCV:

RCV001648107

RCV003984019

ClinVar Variation:

1242257

HGVS (amino-acid)	Matching Registered Transcripts
NP_817084.2:p.Thr441Met	CA8564376 NM_177977.3:c.1322C>T