Allele Registry

This allele is not present in the registry. To get a canonical identifier, please click on the "Get identifier" below.

Canonical Allele Identifier: Get Identifier

Gene: VPS53 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001121631.1:p.Thr680Ser	CA397710383 NM_001128159.3:c.2039C>G CA397710388 NM_001128159.3:c.2038A>T