Canonical Allele Identifier: PA916000134
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 440644
ClinVar RCV Id: RCV000508781 RCV001857284 RCV003317248
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Ala480Thr
CA404086031
NM_001195798.2:c.1438G>A