Canonical Allele Identifier: PA2826212362
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251294
ClinVar RCV Id: RCV000237280 RCV002518478
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys143Arg
CA10584984
NM_001195799.2:c.427T>C