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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.[Thr545_Thr553del;Glu555_Val559delinsArgLeu;Lys562_Val568delinsGlnTrpProProArg;Thr570_Thr574delinsHisProProSerGly]
CA2695228179
NM_001195800.2:c.1633del