Canonical Allele Identifier: PA2580125964
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1744317
ClinVar RCV Id: RCV002342718 RCV003102660
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Ala397Thr
CA9461399
NM_000709.4:c.1189G>A