Canonical Allele Identifier: PA2826088866
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 521416
ClinVar RCV Id: RCV000623785
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166927.1:p.Glu175Gln
CA412394283
NM_001173456.2:c.523G>C