Canonical Allele Identifier: PA916000133
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 420052
ClinVar RCV Id: RCV000485078 RCV001068840
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala480Val
CA16620738
NM_001195798.2:c.1439C>T