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.[Glu229_Gly251delinsValLeuHisSerGlnGlnValArgArgLeuArgGlnTrpGluGluGlnGlyProGlnGlnGlnTrp;Lys253_Ala258delinsGluAlaSerGlySerSer]
CA1022714385
ENST00000291582.6:c.684_685del