Canonical Allele Identifier: PA2825546189
Gene: NPC1L1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2208500
ClinVar RCV Id: RCV004078934
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001095118.1:p.Phe405Leu
CA4242258
NM_001101648.2:c.1213T>C
CA367394806
NM_001101648.2:c.1215C>G
CA367394807
NM_001101648.2:c.1215C>A