Canonical Allele Identifier: PA186042
Gene: CYP27A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 183278
ClinVar RCV Id: RCV000162100 RCV000171331 RCV001850285 RCV001804890 RCV004019950
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Amino-acid Alleles

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