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
ENSP00000451180.1:p.Tyr119Ter	CA390532243 ENST00000553490.5:c.357T>G CA390532244 ENST00000553490.5:c.357T>A