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
ENSP00000404670.1:p.Asn416Lys	CA367394668 ENST00000423141.1:c.1248C>G CA367394671 ENST00000423141.1:c.1248C>A