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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Ile230_Tyr232delinsThrLeuPro;Phe234_Val241delinsLeuHisGlnProAla;Lys243_Leu246delinsGlyGlnGluAsp;Arg248_Ser249delinsAlaGlyPro;Tyr251_Ile255delinsArgValHisGlnProHis;Asn257_Asn260delinsGlnProGluGlu]
CA2497030059
NM_001195800.2:c.689_691delinsC