Canonical Allele Identifier: PA2580204817
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 1961101
ClinVar RCV Id: RCV002691142

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Val60Ala
CA364660453
NM_001318975.1:c.179T>C