Canonical Allele Identifier: PA093378
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96591
ClinVar RCV Id: RCV000082749 RCV000179047
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Arg170His
CA224304
NM_000056.5:c.509G>A