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
NP_001287896.1:p.Glu393Asp
CA4242264
NM_001300967.2:c.1179G>C
CA367394965
NM_001300967.2:c.1179G>T