Canonical Allele Identifier: PA2826216882
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 496019
ClinVar RCV Id: RCV000589406 RCV002279959 RCV002530906
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.Pro399His
CA404086609
NM_001195803.2:c.1196C>A