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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.[Lys425_Leu430delinsSerArgSerLeuTrpPro;Arg432_Gln435delinsThrCysArgPro;Tyr437_Glu439delinsGlySerThrThr;Tyr441_Lys448delinsTrpIleThrSerIleSerGluThrCysSerAlaHisPro]
CA913016479
ENST00000457836.6:c.1274_1277del