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: NPC1L1 HGNC NCBI

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287896.1:p.Trp383Cys	CA367395091 NM_001300967.2:c.1149G>T CA367395093 NM_001300967.2:c.1149G>C