ClinGen Allele Registry
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Canonical Allele Identifier:
PA645426074
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
284176
ClinVar RCV Id:
RCV000299535
RCV001138491
RCV001252458
RCV002347996
RCV003417892
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg164Gln
CA2112624
NM_000784.4:c.491G>A