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_011518171.1:p.Glu974Asp	CA379514773 XM_011519869.1:c.2922G>T CA379514789 XM_011519869.1:c.2922G>C