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: NPC2 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001362369.1:p.Glu118Asp	CA390532250 NM_001375440.1:c.354A>T CA390532251 NM_001375440.1:c.354A>C