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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.[Arg285del;Val287_Leu304del;Thr306_Thr314del]
CA16041098
NM_000056.5:c.853del