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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.[Glu229_Gly251delinsValLeuHisSerGlnGlnValArgArgLeuArgGlnTrpGluGluGlnGlyProGlnGlnGlnTrp;Lys253_Ala258delinsGluAlaSerGlySerSer]
CA1022714385
NM_000383.4:c.684_685del