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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.[Val268del;Ser270_Tyr273delinsLeuHisArg;Phe275_Val282delinsProLeuLeuHisGlnProAla;Lys284_Leu287delinsGlyGlnGluAsp;Arg289_Ser290delinsAlaGlyPro;Tyr292_Ile296delinsArgValHisGlnProHis;Asn298Gln]
CA16609812
XM_011528011.1:c.803_804del