Canonical Allele Identifier: PA2825039424
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 457149
ClinVar RCV Id: RCV000553115 RCV001829563
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Arg168His
CA364657743
NM_000056.5:c.503G>A