Canonical Allele Identifier: PA2826212448
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251346
ClinVar RCV Id: RCV000237153 RCV000791421 RCV002356334
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys175Tyr
CA10585035
NM_001195799.2:c.524G>A