Allele Registry

Canonical Allele Identifier: PA645454235

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000323139

ClinVar Variation:

285776

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Arg378Leu	CA10605241 NM_000284.4:c.1133G>T