Canonical Allele Identifier: PA2826004214
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 522678
ClinVar RCV Id: RCV000625823 RCV002271540
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Arg314Trp
CA9461307
NM_001164783.2:c.940C>T