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: HPS5 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_016872640.1:p.Asp932Glu	CA379514950 XM_017017151.2:c.2796T>G CA379514951 XM_017017151.2:c.2796T>A