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_001309408.1:p.Trp550Cys	CA378043667 NM_001322479.1:c.1650G>C CA378043668 NM_001322479.1:c.1650G>T