ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580117192
Gene: CYP27A1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2121893
ClinVar RCV Id:
RCV003043425
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000775.1:p.Glu392Gln
CA350592700
NM_000784.4:c.1174G>C