Canonical Allele Identifier: PA354911
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 224054
ClinVar RCV Id: RCV000209422
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Val98Gly
CA354910
NM_000056.5:c.293T>G