Allele Registry

Canonical Allele Identifier: PA2828203817

Gene: VPS53 HGNC NCBI

ClinVar RCV:

RCV000128407

RCV003556172

ClinVar Variation:

139444

HGVS (amino-acid)	Matching Registered Transcripts
NP_001353183.1:p.Gln497Arg	CA163215 NM_001366254.2:c.1490A>G