Allele Registry

Canonical Allele Identifier: PA106739

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000805883

RCV002312433

ClinVar Variation:

587952

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Ser397Leu	CA6162291 NM_001163817.2:c.1190C>T