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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.[Glu216Gly;Ala218_Ala219del;Glu221_Gly246delinsGln]
CA913016475
ENST00000457836.6:c.647_648del