Allele Registry

Canonical Allele Identifier: PA2829906211

Gene: VPS53 HGNC NCBI

ClinVar RCV:

RCV000128407

RCV003556172

ClinVar Variation:

139444

HGVS (amino-acid)	Matching Registered Transcripts
NP_060759.2:p.Gln666Arg	CA163215 NM_018289.4:c.1997A>G