Canonical Allele Identifier: PA2580164579
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 1785078
ClinVar RCV Id: RCV002421827 RCV004007394
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala684Val
CA404093668
NM_001195798.2:c.2051C>T