Canonical Allele Identifier: PA224299
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96589
ClinVar RCV Id: RCV000179045 RCV003460756
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Arg170Gly
CA224298
NM_000056.5:c.508C>G