ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA110654
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
4259
ClinVar RCV Id:
RCV000004481
RCV002264907
RCV003982823
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Arg474Trp
CA340215
NM_000784.4:c.1420C>T