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
ENSP00000442488.1:p.Ser95Arg	CA390532410 ENST00000541064.5:c.285T>G CA390532411 ENST00000541064.5:c.285T>A CA390532417 ENST00000541064.5:c.283A>C