Canonical Allele Identifier: PA2580204811
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2159158
ClinVar RCV Id: RCV003072670

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001305904.1:p.Asp47Asn
CA3902594
NM_001318975.1:c.139G>A