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_005258335.1:p.Asp1022Glu	CA401792131 XM_005258278.5:c.3066T>G CA401792132 XM_005258278.5:c.3066T>A