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.Ser388Arg
CA367395026
XM_011515326.3:c.1164C>G
CA367395028
XM_011515326.3:c.1164C>A
CA367395040
XM_011515326.3:c.1162A>C