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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Thr322_Cys323delinsArgVal;Gln325_Asn329delinsGlySerArgHis;Glu331_Cys338delinsGlnProAlaLeuArg;Glu340Pro;Phe342_Gln343delinsGlyTrp;Asp345_Cys351delinsGlnValProVal]
CA2695238674
NM_001195799.2:c.946_964dup