Canonical Allele Identifier: PA2826212612
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3740
ClinVar RCV Id: RCV000003938 RCV000776469 RCV000825593 RCV002051613 RCV002408448
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Cys220Phe
CA023761
NM_001195799.2:c.659G>T