Allele Registry

Canonical Allele Identifier: PA186042

Gene: CYP27A1 HGNC NCBI

ClinVar RCV:

RCV000162100

RCV000171331

RCV001804890

RCV001850285

RCV004019950

ClinVar Variation:

183278

HGVS (amino-acid)	Matching Registered Transcripts
NP_000775.1:p.Arg448Cys	CA186041 NM_000784.4:c.1342C>T