Canonical Allele Identifier: PA916000622
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 252021
ClinVar RCV Id: RCV000238260 RCV000775076 RCV002411089
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ser587Arg
CA036457
NM_001195798.2:c.1761C>G
CA404089730
NM_001195798.2:c.1759A>C
CA404089736
NM_001195798.2:c.1761C>A