Allele Registry

Canonical Allele Identifier: PA658759391

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000578237

RCV000724648

ClinVar Variation:

488492

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Leu157Pro	CA6162556 NM_001360.3:c.470T>C