Canonical Allele Identifier: PA2826212497
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 430761
ClinVar RCV Id: RCV000495903
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.Asp183_Glu187delinsThrAlaValAsnCysGlyLysLeu
CA645373229
NM_001195799.2:c.546_560delinsAACTGCGGTAAACTGCGGTAAACT