Canonical Allele Identifier: PA2830408890
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2159158
ClinVar RCV Id: RCV003072670

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Asp117Asn
CA3902594
NM_183050.3:c.349G>A