Allele Registry

Canonical Allele Identifier: PA891848443

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000805883

RCV002312433

ClinVar Variation:

587952

HGVS (amino-acid)	Matching Registered Transcripts
NP_001351.2:p.Ser397Leu	CA6162291 NM_001360.3:c.1190C>T