Canonical Allele Identifier: PA2825546193
Gene: NPC1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2298425
ClinVar RCV Id: RCV004147590
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001095118.1:p.Ser419Ile
CA367394640
NM_001101648.2:c.1256G>T