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_001309413.1:p.Gln133His	CA378051859 NM_001322484.2:c.399G>C CA378051860 NM_001322484.2:c.399G>T