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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.[Gln35_Asp36delinsLysThr;Lys38_Ile40delinsAsnAlaSerProThr;Tyr42_Gly48delinsGlySerAlaMetAlaAlaLeu;Glu51_Gly55delinsArgMetAlaLeuMet;Asp57_Thr62delinsProArgArgArgAla;Leu64del]
CA2573155694
NM_001195798.2:c.103del