Allele Registry

Canonical Allele Identifier: PA2825322879

Gene: VPS13A HGNC NCBI

ClinVar RCV:

RCV000517261

RCV000605550

RCV001580041

ClinVar Variation:

448864

HGVS (amino-acid)	Matching Registered Transcripts
NP_001018047.1:p.Tyr1548Cys	CA5092598 NM_001018037.2:c.4643A>G