Canonical Allele Identifier: PA913198261
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 623384
ClinVar RCV Id: RCV000761534
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000700.1:p.Leu111Pro
CA406005684
NM_000709.4:c.332T>C