Allele Registry

Canonical Allele Identifier: PA658828956

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000670693

RCV001556238

RCV002222595

ClinVar Variation:

554965

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Glu448Gln	CA381700721 NM_001360.3:c.1342G>C