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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.[Pro106_Ser110del;Glu113_Ser123delinsValLeuProGlyArgValSerLeuPro;Gln125_Phe126delinsTrpGlu;Cys128_Asp129delinsHisLeu;Asp131_Cys134delinsAlaValArgLeu]
CA2573050566
NM_001195798.2:c.312_313del