Canonical Allele Identifier: PA2826088412
Gene: PDHA1 HGNC NCBI
ClinVar Allele:
ClinVar RCV:
ClinVar Variation:

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166926.1:p.Tyr250Asn
CA121218
NM_001173455.2:c.748T>A