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_016881275.1:p.Met1001Leu	CA401792164 XM_017025786.1:c.3001A>T CA401792166 XM_017025786.1:c.3001A>C