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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.[Glu257_Cys258delinsGlyVal;Ile260_Thr273delinsHisHisLeuLeuLeu;Thr275_Ser276del;Tyr279_Ile284delinsTrpLeuArgHisLeuHis;Arg286delinsHisLeu]
CA2585307994
NM_001164783.2:c.769dup