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: NPC1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
XP_006722542.1:p.Asp965Glu	CA401792508 XM_006722479.3:c.2895C>G CA401792509 XM_006722479.3:c.2895C>A