Canonical Allele Identifier: PA115522
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2382
ClinVar RCV Id: RCV002512677
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Cys264Trp
CA115521
NM_000709.4:c.792C>G