Canonical Allele Identifier: PA913203097
Gene: BCKDHB HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Lys166Asn
CA364657732
NM_183050.3:c.498G>C
CA364657733
NM_183050.3:c.498G>T