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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.[Cys46_Gly48delinsAlaAlaLeu;Glu51_Gly55delinsArgMetAlaLeuMet;Asp57_Thr62delinsProArgArgArgAla;Val66_Ser70delinsProAlaAsnPro;Asp72_Cys75delinsThrSerAlaVal;Gly77Ala]
CA2580096304
NM_001195800.2:c.136_142del