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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.Phe56Leu
CA3902512
NM_000056.5:c.168C>A
CA364658389
NM_000056.5:c.166T>C
CA364658396
NM_000056.5:c.168C>G