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.Asp1114Glu	CA401791510 XM_005258278.5:c.3342C>G CA401791511 XM_005258278.5:c.3342C>A