Canonical Allele Identifier: PA2826004230
Gene: BCKDHA HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Glu326Asp
CA406013517
NM_001164783.2:c.978G>C
CA406013518
NM_001164783.2:c.978G>T