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Canonical Allele Identifier: Get Identifier
Gene: AIRE HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000374.1:p.[Gly201_Arg203delinsGluProGlu;Ala205_Glu207delinsProTrpArg;Ile209_Gly227delinsSerSerSerSerArgCysLeuSerGlnAlaAlaProArgSerAlaSerArgLeuAla;Glu229_Phe230delinsSerSer]
CA2577619883
NM_000383.4:c.602del