Allele Registry

Canonical Allele Identifier: PA916046119

Gene: VPS53 HGNC NCBI

ClinVar RCV:

RCV000128407

RCV003556172

ClinVar Variation:

139444

HGVS (amino-acid)	Matching Registered Transcripts
NP_001353182.1:p.Gln695Arg	CA163215 NM_001366253.2:c.2084A>G