Canonical Allele Identifier: PA233528
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 166743
ClinVar RCV Id: RCV000152850 RCV001261643 RCV004527362
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Cys382Arg
CA233527
NM_000056.5:c.1144T>C