Canonical Allele Identifier: PA2826215606
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252186
ClinVar RCV Id: RCV000238581 RCV002229816 RCV002418065
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys513Tyr
CA10585741
NM_001195800.2:c.1538G>A