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
ENSP00000238633.2:p.Val115Leu	CA390532275 ENST00000238633.6:c.343G>T CA390532276 ENST00000238633.6:c.343G>C