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_071364.4:p.Asn617Lys	CA411024125 NM_022081.5:c.1851C>G CA411024126 NM_022081.5:c.1851C>A