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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Cys265_Val268delinsLeuGlnGlyCys;Ser270_Tyr273delinsLeuHisArg;Phe275_Val282delinsProLeuLeuHisGlnProAla;Lys284_Leu287delinsGlyGlnGluAsp;Arg289_Ser290delinsAlaGlyPro;Tyr292_Ser294delinsArgValHisGln]
CA10585336
XM_011528011.1:c.793dup