Allele Registry

Canonical Allele Identifier: PA253948

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000007191

RCV000412788

RCV002371766

ClinVar Variation:

6789

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Thr289Ile	CA253946 NM_001360.3:c.866C>T