Canonical Allele Identifier: PA2826088863
Gene: PDHA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 10882
ClinVar RCV Id: RCV000011629
ClinVar Variation Id: 2795237
ClinVar RCV Id: RCV003621954

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001166927.1:p.Phe174Leu
CA121217
NM_001173456.2:c.522C>G
CA412394264
NM_001173456.2:c.520T>C
CA412394274
NM_001173456.2:c.522C>A