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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_005248813.1:p.[Asp59_Leu73delinsArgSerGlyAlaProGlyValArgAlaAsnSerGluAsnGluSer;Gln75_Ser76delinsPro;Thr78_Ser84delinsCysAsnLysCys;Ala86_Asp88delinsGly]
CA568600938
XM_005248756.3:c.174dup