Canonical Allele Identifier: PA2826212559
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251425
ClinVar RCV Id: RCV000238428 RCV000802806 RCV001264593
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys202Arg
CA10585105
NM_001195799.2:c.604T>C