ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499231884
Gene: AIRE
HGNC
NCBI
Linked Data
ClinVar Variation Id:
1057385
ClinVar RCV Id:
RCV001366354
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000374.1:p.Ser239Tyr
CA410424434
NM_000383.4:c.716C>A