Allele Registry

Canonical Allele Identifier: PA106728

Gene: DHCR7 HGNC NCBI

ClinVar RCV:

RCV000020437

RCV001818169

RCV002345251

ClinVar Variation:

21274

HGVS (amino-acid)	Matching Registered Transcripts
NP_001157289.1:p.Ser169Leu	CA341824 NM_001163817.2:c.506C>T