Allele Registry

Canonical Allele Identifier: PA121207

Gene: PDHA1 HGNC NCBI

ClinVar RCV:

RCV000011621

ClinVar Variation:

10874

HGVS (amino-acid)	Matching Registered Transcripts
NP_000275.1:p.Lys313del	CA121206 NM_000284.4:c.938_940del