Canonical Allele Identifier: PA2826089024
Gene: PDHA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166927.1:p.Arg257His
CA121226
NM_001173456.2:c.770G>A