ClinGen Allele Registry
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Canonical Allele Identifier:
PA645426076
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
288473
ClinVar RCV Id:
RCV000260963
RCV000363976
RCV002244740
RCV003910011
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg193Gln
CA2112656
NM_000784.4:c.578G>A