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.Glu857Asp	CA379519641 NM_181507.2:c.2571A>T CA379519645 NM_181507.2:c.2571A>C