Allele Registry

Canonical Allele Identifier: PA221676

Gene: DHCR7 HGNC NCBI

ClinVar Allele:

99623

ClinVar RCV:

RCV000079656

RCV001274683

RCV002313766

ClinVar Variation:

93720

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Ala162Val	CA221674 NM_001360.3:c.485C>T