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

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011513628.1:p.Lys430Asn
CA367394419
XM_011515326.3:c.1290G>T
CA367394421
XM_011515326.3:c.1290G>C