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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.[Asp334_Lys336delinsGlyTyrGln;Val338_Arg345delinsArgGluGluGluAsnValIleGlnGly;Asn347_Ser349delinsArgLeuGlnAla;Pro351delinsGlyHis;Ala353_Val359delinsGlyGlySerCysSerTrpLeu;Gly361_Phe362del]
CA10585484
NM_001195800.2:c.998dup