Canonical Allele Identifier: PA2825039390
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1961101
ClinVar RCV Id: RCV002691142

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Val130Ala
CA364660453
NM_000056.5:c.389T>C