Allele Registry

Canonical Allele Identifier: PA2829812947

Gene: VPS13A HGNC NCBI

ClinVar RCV:

RCV000517783

RCV001851475

RCV002481690

ClinVar Variation:

448872

HGVS (amino-acid)	Matching Registered Transcripts
NP_056001.1:p.His2742Arg	CA5093583 NM_015186.4:c.8225A>G