Allele Registry

Canonical Allele Identifier: PA645485832

Gene: DHCR7 HGNC NCBI

ClinVar Variation Id: 305955

ClinVar RCV Id: RCV000292578

ClinVar Variation Id: 1455459

ClinVar RCV Id: RCV001946599

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Phe361Leu	CA6162320 NM_001360.3:c.1083C>A CA381702110 NM_001360.3:c.1083C>G CA381702119 NM_001360.3:c.1081T>C