Canonical Allele Identifier: PA916000252
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183117
ClinVar RCV Id: RCV000161990 RCV000237290 RCV001175675 RCV004526622
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Lys504Glu
CA023518
NM_001195798.2:c.1510A>G