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: TBX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_006724375.1:p.Arg495_Ter496insLysHisGlyProCysArgAlaProAlaProValLeuHisSerProGluValArgArgAlaArgProProCysProLysGlyLysGlnGlyIleArgSerProSerProArgGlyHisArgGlySerProLeuProGlnProArgSerHisGlyGlyProLeuAlaThrProSerProLeuGlyTyrArgSerIleArgPheProSerProTrpSerHisArgGlySerPheProGlyProGluGlyGlnGlyGlyProArgProProValProLysArgProValGlyGlyGlyArgLys
CA10102790
XM_006724312.2:c.1486T>A