Canonical Allele Identifier: PA2826212637
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 161279
ClinVar RCV Id: RCV000161966 RCV000210247 RCV000775049 RCV002051672 RCV002415633 RCV002247541
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Gly228Asp
CA023767
NM_001195799.2:c.683G>A