ClinGen Allele Registry
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Canonical Allele Identifier:
PA2499234139
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1284558
ClinVar RCV Id:
RCV001699978
RCV001866266
RCV004039951
RCV003394217
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg262Cys
CA2112713
NM_000784.4:c.784C>T