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: HPS3 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001295187.1:p.Lys194Asn	CA354915777 NM_001308258.2:c.582A>C CA354915778 NM_001308258.2:c.582A>T