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
XP_011518169.1:p.Thr858Ser	CA379514880 XM_011519867.1:c.2573C>G CA379514883 XM_011519867.1:c.2572A>T