Allele Registry

Canonical Allele Identifier: PA2825964523

Gene: DHCR7 HGNC NCBI

ClinVar Allele:

327949

1464575

ClinVar RCV:

RCV000292578

RCV001946599

ClinVar Variation:

305955

1455459

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Phe361Leu	CA6162320 NM_001163817.2:c.1083C>A CA381702110 NM_001163817.2:c.1083C>G CA381702119 NM_001163817.2:c.1081T>C