Allele Registry

Canonical Allele Identifier: PA2825964430

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000675015

ClinVar Variation:

558708

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Asn287Lys	CA6162413 NM_001163817.2:c.861C>A CA381703106 NM_001163817.2:c.861C>G