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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000318351.5:p.[His22_Ala29delinsThrGlyValGlyPheLeuAlaArg;Leu31_Ala32delinsTrp;Gly34_Phe35insAla;Leu36_His37delinsCysThr;Ala39_Gln47delinsProArgLeuSerArgMetArgPro;Arg49_Val51delinsGlyGlyArg]
CA2679496967
ENST00000320393.9:c.63del