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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000269980.2:p.[Ala226_Glu238delinsProMetProThrGlySerSerSerValThrSerAlaArg;Ala240_Glu243delinsGlnProValArg;Asp245_Thr255delinsThrProMetProAlaSerThrSerLeuProHis]
CA9461240
ENST00000269980.7:c.676del