Canonical Allele Identifier: PA915992917
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 432213
ClinVar RCV Id: RCV000498478

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166925.1:p.Glu175Lys
CA412391372
NM_001173454.2:c.523G>A