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
XP_006717881.1:p.Asp146Glu	CA378052147 XM_006717818.1:c.438C>A CA378052149 XM_006717818.1:c.438C>G