Canonical Allele Identifier: PA916000643
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161290
ClinVar RCV Id: RCV000237585 RCV000588105 RCV000518174 RCV002399519 RCV002051683
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg595Trp
CA023581
NM_001195798.2:c.1783C>T