Canonical Allele Identifier: PA2580151247
Gene: BCKDHA HGNC NCBI

Linked Data

ClinVar Variation Id: 1943557
ClinVar RCV Id: RCV002650514
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001158255.1:p.Asp94Glu
CA406005084
NM_001164783.2:c.282C>A
CA406005086
NM_001164783.2:c.282C>G