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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.[Arg215del;Val217_Leu234del;Thr236_Thr244del]
CA16041098
NM_001318975.1:c.643del