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Canonical Allele Identifier: Get Identifier
Gene: TBX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000497003.1:p.[Ala476_Pro495delinsProProLeuProGlnLeuProArgProProThrCysThrArgArgProGluProArgArg;Gly497_Cys502delinsAlaProThrThrIleAla;Arg504Asp]
CA2655306565
ENST00000649276.2:c.1425del