Allele Registry

Canonical Allele Identifier: PA2826856588

Gene: NPC1L1 HGNC NCBI

ClinVar Variation Id: 2208500

HGVS (amino-acid)	Matching Registered Transcripts
NP_001287896.1:p.Phe405Leu	CA4242258 NM_001300967.2:c.1213T>C CA367394806 NM_001300967.2:c.1215C>G CA367394807 NM_001300967.2:c.1215C>A