Canonical Allele Identifier: PA2826088339
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10893
ClinVar RCV Id: RCV000011640
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166926.1:p.Leu223Phe
CA121228
NM_001173455.2:c.669A>C
CA412394433
NM_001173455.2:c.669A>T