Canonical Allele Identifier: PA916000937
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252163
ClinVar RCV Id: RCV000238269 RCV000821494 RCV001812663
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Cys667Arg
CA10585722
NM_001195798.2:c.1999T>C