Allele Registry

Canonical Allele Identifier: PA106505

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000670693

RCV001556238

RCV002222595

ClinVar Variation:

554965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Glu448Gln	CA381700721 NM_001163817.2:c.1342G>C