Allele Registry

Canonical Allele Identifier: PA2826089053

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000413235

ClinVar Variation:

373051

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166927.1:p.Val279_Arg280insSerGlnGluVal	CA16043300 NM_001173456.2:c.828_839dup