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: HPS1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001309409.1:p.Trp496Cys	CA378043667 NM_001322480.2:c.1488G>C CA378043668 NM_001322480.2:c.1488G>T