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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000416000.2:p.[Leu26_Lys29delinsArgMetThrSer;Gln31_Pro33delinsSerSerGln;Ala35_Gln47del;Asn49_Ile51delinsArgArg;Gly53Leu;Pro55_Ile56del]
CA658799238
ENST00000457836.6:c.77del