Allele Registry

Canonical Allele Identifier: PA252427

Gene: VPS13B HGNC NCBI

ClinVar RCV:

RCV000002953

ClinVar Variation:

2819

HGVS (amino-acid)	Matching Registered Transcripts
NP_060360.3:p.Leu2193Arg	CA252423 NM_017890.5:c.6578T>G