Canonical Allele Identifier: PA2826856587
Gene: NPC1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2383151
ClinVar RCV Id: RCV004223690
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001287896.1:p.Thr376Ser
CA4242276
NM_001300967.2:c.1126A>T
CA367395164
NM_001300967.2:c.1127C>G