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_005258336.1:p.Val950Leu	CA401792497 XM_005258279.2:c.2848G>T CA401792498 XM_005258279.2:c.2848G>C