Canonical Allele Identifier: PA221197
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 93354
ClinVar RCV Id: RCV000079236 RCV001283813 RCV003987352
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Asp116Gly
CA221196
NM_000709.4:c.347A>G