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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.[Leu48_Lys51delinsArgMetThrSer;Gln53_Pro55delinsSerSerGln;Ala57_Gln69del;Asn71_Ile73delinsArgArg;Gly75Leu;Pro77_Ile78del]
CA658799238
NM_000709.4:c.143del