Canonical Allele Identifier: PA115516
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 2380
ClinVar RCV Id: RCV001064270 RCV001818118
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Gly249Ser
CA115515
NM_000709.4:c.745G>A