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_006722542.1:p.His415Gln	CA401777761 XM_006722479.3:c.1245C>G CA401777764 XM_006722479.3:c.1245C>A