Canonical Allele Identifier: PA2499302913
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1069097
ClinVar RCV Id: RCV001380845
ClinVar Variation Id: 1454198
ClinVar RCV Id: RCV001941750
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Gly66Arg
CA364658456
NM_183050.3:c.196G>A
CA364658458
NM_183050.3:c.196G>C