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.Lys116Asn	CA390532264 NM_001375440.1:c.348A>T CA390532265 NM_001375440.1:c.348A>C