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Canonical Allele Identifier: Get Identifier
Gene: BCKDHA HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.[Tyr344Ala;Ser346_Tyr352del;Asp354_Pro359delinsMetArgSerIleThrGly;Ser361Asn;Leu363_Gln370delinsThrThrProSerProGlyCys;Trp372_Asp374delinsThrIleCys]
CA2831039051
NM_001164783.2:c.1029_1032del