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_011524317.1:p.His260Gln	CA401777761 XM_011526015.1:c.780C>G CA401777764 XM_011526015.1:c.780C>A