Allele Registry

Canonical Allele Identifier: PA2825964188

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000153144

RCV000876959

RCV000897661

RCV001487990

RCV002415645

RCV003917497

ClinVar Variation:

166989

706368

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Gly70Ser	CA233887 NM_001163817.2:c.208G>A CA915948246 NM_001163817.2:c.207_208delinsCA