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
ENSP00000392462.2:p.Asp233Glu	CA378052147 ENST00000414009.2:c.699C>A CA378052149 ENST00000414009.2:c.699C>G