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_001095118.1:p.Lys430Asn	CA367394419 NM_001101648.2:c.1290G>T CA367394421 NM_001101648.2:c.1290G>C