Canonical Allele Identifier: PA2827026631
Gene: BCKDHB HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Lys141Asn
CA3902660
NM_001318975.1:c.423G>C
CA364658197
NM_001318975.1:c.423G>T