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Canonical Allele Identifier: Get Identifier
Gene: TBX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001366129.1:p.Arg504_Ter505insGlnHisGlyProCysArgAlaProAlaProValLeuHisSerProGluValArgArgAlaArgProProCysProLysGlyLysGlnGlyIleArgSerProSerProArgGlyHisArgGlySerProLeuProGlnProArgSerHisGlyGlyProLeuAlaThrProSerProLeuGlyTyrArgSerIleArgPheProSerProTrpSerHisArgGlySerPheProGlyProGluGlyGlnGlyGlyProArgProProValProLysArgProValGlyGlyGlyArgLys
CA410685843
NM_001379200.1:c.1513T>C