Canonical Allele Identifier: PA916000634
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183126
ClinVar RCV Id: RCV000162002 RCV000211609 RCV001034677
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Arg595Gln
CA023585
NM_001195798.2:c.1784G>A