Canonical Allele Identifier: PA2580541012
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 2300660
ClinVar RCV Id: RCV002883034

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_898871.1:p.Pro60Leu
CA142276839
NM_183050.3:c.179C>T