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
ENSP00000514159.1:p.Trp583Cys	CA378043667 ENST00000699142.1:c.1749G>C CA378043668 ENST00000699142.1:c.1749G>T