Canonical Allele Identifier: PA916000974
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252185
ClinVar RCV Id: RCV000238019 RCV000588515 RCV002229693
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys681Gly
CA10585740
NM_001195798.2:c.2041T>G