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_016881274.1:p.Tyr916del	CA401792842 XM_017025785.1:c.2748C>G CA401792843 XM_017025785.1:c.2748C>A