Canonical Allele Identifier: PA248007
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 199035
ClinVar RCV Id: RCV000180525 RCV002478600
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Ser426Phe
CA248006
NM_000709.4:c.1277C>T