Allele Registry

Canonical Allele Identifier: PA2825324028

Gene: VPS13A HGNC NCBI

ClinVar RCV:

RCV000347795

RCV000518783

RCV001562536

RCV002523807

ClinVar Variation:

367364

HGVS (amino-acid)	Matching Registered Transcripts
NP_001018048.1:p.Ser734Asn	CA5091890 NM_001018038.3:c.2201G>A