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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.[Tyr257_Gly266delinsPheAlaAlaMetAlaLeuGlnHisGluAla;Tyr269_Asn286delinsMetAlaSerCysGlnSerAlaTrpMetValMetMetCysLeuProTyrThrThr]
CA406013062
ENST00000457836.6:c.770del