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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Asp375_Lys377delinsGlyTyrGln;Val379_Arg386delinsArgGluGluGluAsnValIleGlnGly;Asn388_Ser390delinsArgLeuGlnAla;Pro392delinsGlyHis;Ala394_Val400delinsGlyGlySerCysSerTrpLeu;Gly402_Phe403del]
CA10585484
NM_001195803.2:c.1121dup