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_006423.1:p.Asp104Glu	CA390532346 NM_006432.5:c.312C>G CA390532347 NM_006432.5:c.312C>A