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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.[Lys243_Pro254delinsArgThrArgProAlaAlaAlaValAlaArgSer;Val256_Gly263delinsTrpPheGluProArgGluProArg;Ala265Leu;Gly267_Gly269delinsProVal;Ala271Val;Leu273dup]
CA2654791986
NM_000383.4:c.726del