Canonical Allele Identifier: PA645437879
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_000700.1:p.Leu48Pro
CA10642867
NM_000709.4:c.143T>C