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Canonical Allele Identifier: Get Identifier
Gene: TBX1 HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000331791.4:p.[Leu223_Met234delinsThrGlyArgGlnArgProHisTyrSerGluPhe;Arg236_Gln238delinsAlaGlnIle;Arg240_Ser252delinsAlaProLeuProArgGlyLeuCysGlyProThrGlnArg]
CA2838226820
ENST00000332710.8:c.666dup