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
NP_852609.1:p.Leu780Phe	CA379518693 NM_181508.1:c.2340A>T CA379518697 NM_181508.1:c.2340A>C