Canonical Allele Identifier: PA2826089006
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 384555
ClinVar RCV Id: RCV000427505 RCV001250113
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166927.1:p.Gly247Arg
CA16608805
NM_001173456.2:c.739G>A
CA412395134
NM_001173456.2:c.739G>C