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_011524317.1:p.Asp810Glu	CA401792508 XM_011526015.1:c.2430C>G CA401792509 XM_011526015.1:c.2430C>A