Canonical Allele Identifier: PA915992982
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_001166925.1:p.Leu254Phe
CA121228
NM_001173454.2:c.762A>C
CA412394433
NM_001173454.2:c.762A>T