Allele Registry

Canonical Allele Identifier: PA658828880

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000668709

RCV000756013

ClinVar Variation:

553296

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Leu99Pro	CA6162643 NM_001360.3:c.296T>C