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Canonical Allele Identifier: Get Identifier
Gene: TBX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_542378.1:p.Arg495_Ter496insGlnHisGlyProCysArgAlaProAlaProValLeuHisSerProGluValArgArgAlaArgProProCysProLysGlyLysGlnGlyIleArgSerProSerProArgGlyHisArgGlySerProLeuProGlnProArgSerHisGlyGlyProLeuAlaThrProSerProLeuGlyTyrArgSerIleArgPheProSerProTrpSerHisArgGlySerPheProGlyProGluGlyGlnGlyGlyProArgProProValProLysArgProValGlyGlyGlyArgLys
CA410685843
NM_080647.1:c.1486T>C