Canonical Allele Identifier: PA224307
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 96592
ClinVar RCV Id: RCV000082750 RCV000631889 RCV002513855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Arg170Pro
CA224306
NM_000056.5:c.509G>C