Allele Registry

Canonical Allele Identifier: PA658801035

Gene: CYP27A1 HGNC NCBI

ClinVar RCV:

RCV000712499

RCV001498426

RCV002395534

ClinVar Variation:

501139

HGVS (amino-acid)	Matching Registered Transcripts
NP_000775.1:p.Val50Ile	CA2112521 NM_000784.4:c.148G>A