Canonical Allele Identifier: PA2826212545
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 375798
ClinVar RCV Id: RCV000775604 RCV000417334 RCV003477911
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Arg196His
CA044568
NM_001195799.2:c.587G>A