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.Asp990Glu	CA401792332 XM_017025785.1:c.2970C>G CA401792333 XM_017025785.1:c.2970C>A