Canonical Allele Identifier: PA915998591
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3739
ClinVar RCV Id: RCV000003937 RCV000587146 RCV000826197 RCV001535532 RCV002345227
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys184Tyr
CA023721
NM_001195798.2:c.551G>A