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: HPS5 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_852608.1:p.Leu894Phe	CA379518693 NM_181507.2:c.2682A>T CA379518697 NM_181507.2:c.2682A>C