Allele Registry

Canonical Allele Identifier: PA645454231

Gene: PDHA1 HGNC NCBI

ClinVar Allele:

275492

ClinVar RCV:

RCV000407596

RCV003225059

ClinVar Variation:

291255

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Ala349Thr	CA10607080 NM_000284.4:c.1045G>A