Canonical Allele Identifier: PA915988968
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 204377
ClinVar RCV Id: RCV000209700
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Asp282His
CA354918
NM_001164783.2:c.844G>C