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: HPS4 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001336834.1:p.Thr623Ser	CA411024071 NM_001349905.1:c.1868C>G CA411024073 NM_001349905.1:c.1867A>T