Allele Registry

Canonical Allele Identifier: PA915992925

Gene: PDHA1 HGNC NCBI

ClinVar Allele:

481436

ClinVar RCV:

RCV000578270

ClinVar Variation:

488568

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Ser190Leu	CA412393200 NM_001173454.2:c.569C>T