Allele Registry

Canonical Allele Identifier: PA2573186178

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000413235

ClinVar Variation:

373051

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Val348_Arg349insSerGlnGluVal	CA16043300 NM_001173454.2:c.1035_1046dup