Canonical Allele Identifier: PA2825039387
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1937187
ClinVar RCV Id: RCV002627603

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Pro123Ser
CA364660399
NM_000056.5:c.367C>T