ClinGen Allele Registry
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Canonical Allele Identifier:
PA645426075
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
287928
ClinVar RCV Id:
RCV000373213
RCV000397675
RCV002348013
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Asn179Ser
CA2112641
NM_000784.4:c.536A>G