Canonical Allele Identifier: PA916000985
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252189
ClinVar RCV Id: RCV000237612 RCV002418066 RCV003581639
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu682Pro
CA10585744
NM_001195798.2:c.2045T>C