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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.[Tyr345Ala;Ser347_Tyr353del;Asp355_Pro360delinsMetArgSerIleThrGly;Ser362Asn;Leu364_Gln371delinsThrThrProSerProGlyCys;Trp373_Asp375delinsThrIleCys]
CA2831039051
ENST00000269980.7:c.1032_1035del