Allele Registry

Canonical Allele Identifier: PA2825964671

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000622787

RCV000762863

ClinVar Variation:

520690

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Leu470Gln	CA381700454 NM_001163817.2:c.1409T>A