Canonical Allele Identifier: PA2580361504
Gene: NPC1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2298425
ClinVar RCV Id: RCV004147590
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_037521.2:p.Ser419Ile
CA367394640
NM_013389.3:c.1256G>T