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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Leu758_Leu768delinsGluGlnTrpArgLeuProValSerValProProCys;Pro771Asp;Ile773_Asn774delinsPro;His776_Cys784delinsLeuAlaGlnValTyrLeuArgLeu;Asp786_Gly787delinsGlyArg]
CA10585728
ENST00000252444.10:c.2271_2272del