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_001350617.1:p.Val74Leu	CA390532545 NM_001363688.1:c.220G>T CA390532546 NM_001363688.1:c.220G>C