Canonical Allele Identifier: PA224302
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96590
ClinVar RCV Id: RCV000179043 RCV000790692 RCV002513854
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Arg170Cys
CA224301
NM_000056.5:c.508C>T