Canonical Allele Identifier: PA915999439
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161274
ClinVar RCV Id: RCV000218676 RCV000238033 RCV000162022 RCV000771314 RCV002381456 RCV002051667
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp342Asn
CA023404
NM_001195798.2:c.1024G>A