Canonical Allele Identifier: PA2826212919
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1783245
ClinVar RCV Id: RCV002421554
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Glu316Val
CA404083139
NM_001195799.2:c.947A>T