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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.[Ala198_Glu216delinsGlyThrGlnProSerGlyProMetProThrGlySerSerSerValThrSerAlaArg;Ala218_Glu221delinsGlnProValArg;Asp223_Gly227delinsThrProMetProAla]
CA2580097290
ENST00000457836.6:c.593del