Canonical Allele Identifier: PA2825039418
Gene: BCKDHB HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Lys166Asn
CA364657732
NM_000056.5:c.498G>C
CA364657733
NM_000056.5:c.498G>T