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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Cys222_Val233delinsProAlaAlaArgThrAsnLeuThrArgLysThr;Thr235_Arg237delinsLeuTrpPro;Asp239_Cys243delinsValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAlaSerMet]
CA2573050580
NM_001195798.2:c.663_664insCCCGC