Allele Registry

Canonical Allele Identifier: PA915993084

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000435734

ClinVar Variation:

388168

HGVS (amino-acid)	Matching Registered Transcripts
NP_001166925.1:p.Val380Gly	CA16608807 NM_001173454.2:c.1139T>G