Allele Registry

Canonical Allele Identifier: PA658801047

Gene: CYP27A1 HGNC NCBI

ClinVar Allele:

489781

ClinVar RCV:

RCV000594613

RCV000765608

RCV003420031

RCV004024736

ClinVar Variation:

498357

HGVS (amino-acid)	Matching Registered Transcripts
NP_000775.1:p.Arg164Pro	CA2112625 NM_000784.4:c.491G>C