Canonical Allele Identifier: PA2825039386
Gene: BCKDHB HGNC NCBI

Linked Data

ClinVar Variation Id: 594238
ClinVar RCV Id: RCV000729477
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000047.1:p.Pro123Leu
CA364660404
NM_000056.5:c.368C>T