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
ENSP00000451206.1:p.Val145Leu	CA390531578 ENST00000557510.5:c.433G>T CA390531581 ENST00000557510.5:c.433G>C