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_016872642.1:p.Glu820Asp	CA379519641 XM_017017153.2:c.2460A>T CA379519645 XM_017017153.2:c.2460A>C