Canonical Allele Identifier: PA916052146
Gene: BCKDHB HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Lys211Asn
CA3902660
NM_183050.3:c.633G>C
CA364658197
NM_183050.3:c.633G>T