Allele Registry

Canonical Allele Identifier: PA2825964634

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV002289056

RCV003154241

ClinVar Variation:

1709241

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Cys451Arg	CA6162251 NM_001163817.2:c.1351T>C