Allele Registry

Canonical Allele Identifier: PA253951

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000007192

RCV003407291

ClinVar Variation:

6790

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Tyr280Cys	CA253949 NM_001360.3:c.839A>G