Canonical Allele Identifier: PA915993031
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10879
ClinVar RCV Id: RCV000011626 RCV000199671 RCV000622696 RCV003407316
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166925.1:p.Arg340Cys
CA121214
NM_001173454.2:c.1018C>T