Canonical Allele Identifier: PA2826088294
Gene: PDHA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166926.1:p.Leu186Arg
CA412393934
NM_001173455.2:c.557T>G