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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.[Thr41_His53delinsCysArgGlyCysGlyProGluAlaAlaGlyGlySer;Thr55Tyr;Gln57_Glu61delinsProAlaArgSerGlyAla;Arg63_Lys70delinsGlyValArgAlaAsnSerGluAsn]
CA2695206798
ENST00000320393.9:c.121_122del