Canonical Allele Identifier: PA2826004325
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2534031
ClinVar RCV Id: RCV003276065

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Asp443Asn
CA9461433
NM_001164783.2:c.1327G>A