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.Thr106Ser	CA390532333 ENST00000557510.5:c.317C>G CA390532335 ENST00000557510.5:c.316A>T