Canonical Allele Identifier: PA2826212482
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183093
ClinVar RCV Id: RCV000161963 RCV000238340 RCV002362855
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys181Tyr
CA023742
NM_001195799.2:c.542G>A