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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.[His22_Trp23delinsLeu;Arg25_Pro27delinsGlyThr;Ala29Val;Gly30_Leu31insPhe;Phe35_Ala40delinsTrpArgGlyAlaPheCys;Val42_Gln47delinsProProArgLeuSerArgMet;Arg48_Arg49insPro;Gln50_Val51delinsGlyGlyArgTrp]
CA828530321
NM_183050.3:c.57_64dup