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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000348880.5:p.[Asp173delinsIlePhe;Phe175_Gly178delinsThrValGluAla;Thr181_Ser184delinsSerGly;Trp186Leu;Cys188Ala;Gly190_Ala193delinsLeuValMetGly;Tyr195_Ala202delinsSerIleIleLeuArgValLeuLysHis]
CA2578677756
ENST00000356489.9:c.517del