ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580114240
Gene: AIRE
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_000374.1:p.Thr480Ala
CA410425917
NM_000383.4:c.1438A>G