Canonical Allele Identifier: PA2826212511
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3690
ClinVar RCV Id: RCV000003876 RCV000771320 RCV001823092 RCV002362555
ClinVar Variation Id: 403632
ClinVar RCV Id: RCV000455843 RCV002248667 RCV002365580 RCV003581665
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp186Glu
CA023747
NM_001195799.2:c.558C>G
CA16609806
NM_001195799.2:c.558C>A