Canonical Allele Identifier: PA2825039284
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 966957
ClinVar RCV Id: RCV001241757 RCV001828984
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Val4Ile
CA3902468
NM_000056.5:c.10G>A