ClinGen Allele Registry
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Canonical Allele Identifier:
PA658664853
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
449362
ClinVar RCV Id:
RCV000670762
RCV000727184
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg513His
CA2112939
NM_000784.4:c.1538G>A