Canonical Allele Identifier: PA2826215112
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 919898
ClinVar RCV Id: RCV001178322 RCV002393393 RCV004006466
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Ser331Cys
CA034538
NM_001195800.2:c.992C>G