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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.[Asn428_Ala431delinsLysTrpSer;Asp433Trp;Glu435_Asn439delinsArg;Ile441_Tyr442del;Ser444_Met450delinsProAla;Cys452Glu;Gln455Gly;Asp457delinsThrCysPro;Arg458_Ala459insGlu]
CA916080207
NM_001195798.2:c.1284del