Canonical Allele Identifier: PA916000655
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252035
ClinVar RCV Id: RCV000237846 RCV002518488 RCV003165670
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Leu599Ser
CA10585616
NM_001195798.2:c.1796T>C