This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.
Canonical Allele Identifier: Get Identifier
Gene: AIRE HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000291582.5:p.[Lys243_Pro254delinsArgThrArgProAlaAlaAlaValAlaArgSer;Val256_Gly263delinsTrpPheGluProArgGluProArg;Ala265Leu;Gly267_Gly269delinsProVal;Ala271Val;Leu273dup]
CA2654791986
ENST00000291582.6:c.726del