Canonical Allele Identifier: PA2826004307
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 557742
ClinVar RCV Id: RCV000673920
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Leu426_Ala427delinsPro
CA9461420
NM_001164783.2:c.1277_1279del