Allele Registry

Canonical Allele Identifier: PA2499253111

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV001377821

RCV002291753

RCV003898362

ClinVar Variation:

1066741

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Arg443Leu	CA6162262 NM_001360.3:c.1328G>T