Allele Registry

Canonical Allele Identifier: PA891848373

Gene: DHCR7 HGNC NCBI

ClinVar Allele:

579753

ClinVar RCV:

RCV000728546

RCV000882330

RCV001672935

RCV002316093

ClinVar Variation:

588175

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Val76Ile	CA6162660 NM_001360.3:c.226G>A