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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Ala431delinsTrpSer;Asp433Trp;Glu435_Asn439delinsArg;Ile441_Tyr442del;Ser444_Met450delinsProAla;Cys452Glu;Gln455Gly;Asp457delinsThrCysPro;Ala459Glu]
CA2573131732
ENST00000557933.5:c.1285_1289dup