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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000416000.2:p.[His320_Glu323delinsPro;Thr325_Trp328del;Pro330_Leu331delinsSer;Leu333_Gly337del;His339_Arg349del]
CA2576793862
ENST00000457836.6:c.959del