Allele Registry

Canonical Allele Identifier: PA2580217924

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV002289056

RCV003154241

ClinVar Variation:

1709241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Cys451Arg	CA6162251 NM_001360.3:c.1351T>C