Canonical Allele Identifier: PA915988912
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 329358
ClinVar RCV Id: RCV000306026
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Leu48Pro
CA10642867
NM_001164783.2:c.143T>C