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_005258334.1:p.Asp433Glu	CA401777436 XM_005258277.1:c.1299C>G CA401777438 XM_005258277.1:c.1299C>A