Allele Registry

Canonical Allele Identifier: PA2825324622

Gene: VPS13A HGNC NCBI

ClinVar RCV:

RCV000306726

RCV000866730

RCV002523812

ClinVar Variation:

367392

HGVS (amino-acid)	Matching Registered Transcripts
NP_001018048.1:p.Asn1929Ser	CA5092850 NM_001018038.3:c.5786A>G