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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.[Arg24_Arg25del;Ala29_Ala32del;Leu36_Ala40del;Val42_His53del;Thr55_Phe56del]
CA915944361
ENST00000320393.9:c.70_71insTTCCTGGCAGGGGCTGAGGA