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_016884414.1:p.Arg545_Ter546insGlnHisGlyProCysArgAlaProAlaProValLeuHisSerProGluValArgArgAlaArgProProCysProLysGlyLysGlnGlyIleArgSerProSerProArgGlyHisArgGlySerProLeuProGlnProArgSerHisGlyGlyProLeuAlaThrProSerProLeuGlyTyrArgSerIleArgPheProSerProTrpSerHisArgGlySerPheProGlyProGluGlyGlnGlyGlyProArgProProValProLysArgProValGlyGlyGlyArgLys
CA410685843
XM_017028925.1:c.1636T>C