Canonical Allele Identifier: PA354927
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 204380
ClinVar RCV Id: RCV000209796
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Gln157Pro
CA354926
NM_000709.4:c.470A>C