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
ENSP00000399590.2:p.Ile857Leu	CA379514903 ENST00000438420.6:c.2569A>T CA379514908 ENST00000438420.6:c.2569A>C