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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Ser199Arg
CA364658025
NM_000056.5:c.595A>C
CA364658037
NM_000056.5:c.597T>A
CA364658039
NM_000056.5:c.597T>G