Allele Registry

Canonical Allele Identifier: PA913194929

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000732813

RCV001110781

RCV001844232

ClinVar Variation:

596851

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Arg469His	CA6162235 NM_001360.3:c.1406G>A