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Canonical Allele Identifier: Get Identifier
Gene: BCKDHB HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Arg48Ser
CA364658305
NM_183050.3:c.144G>C
CA364658306
NM_183050.3:c.144G>T