Canonical Allele Identifier: PA915998464
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 183136
ClinVar RCV Id: RCV000162017 RCV000211669 RCV000775041 RCV000825592 RCV002336377 RCV003927531
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.Asp168Asn
CA023709
NM_001195798.2:c.502G>A