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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453696.2:p.[Asp502_Lys504delinsGlyTyrGln;Val506_Arg513delinsArgGluGluGluAsnValIleGlnGly;Asn515_Ser517delinsArgLeuGlnAla;Pro519delinsGlyHis;Ala521_Val527delinsGlyGlySerCysSerTrpLeu;Gly529_Phe530del]
CA10585484
ENST00000559340.2:c.1502dup