Canonical Allele Identifier: PA2825039349
Gene: BCKDHB HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Gly66Arg
CA364658456
NM_000056.5:c.196G>A
CA364658458
NM_000056.5:c.196G>C