Canonical Allele Identifier: PA916024164
Gene: BCKDHB HGNC NCBI
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Lys96Asn
CA364657732
NM_001318975.1:c.288G>C
CA364657733
NM_001318975.1:c.288G>T