Canonical Allele Identifier: PA2580125958
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2142610
ClinVar RCV Id: RCV003062657
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Ala344Val
CA9461359
NM_000709.4:c.1031C>T