Canonical Allele Identifier: PA2826213104
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183110
ClinVar RCV Id: RCV000161982 RCV000211633 RCV000586690 RCV000825619 RCV002390392
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg375Trp
CA023441
NM_001195799.2:c.1123C>T