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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.Tyr392_Ter393insCysProTyrArgLysAlaGlyArgLeu
CA3902864
NM_000056.5:c.1179A>C
CA365021662
NM_000056.5:c.1179A>T