Canonical Allele Identifier: PA2826214640
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 251600
ClinVar RCV Id: RCV000237709 RCV000775249 RCV002365245 RCV004017548
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.Cys172Tyr
CA10585252
NM_001195800.2:c.515G>A