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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.[Gln347_Leu352delinsHisProGlyProArgArg;Val354_Thr364delinsGlyCysGlyLeuAspProGlnGlnHisLeuLeu;Ser366_Leu368delinsArgLeuCysPro;Thr370_Ala374delinsHisCysLeuCysCys]
CA645509280
XM_011528011.1:c.1032_1033delinsGGACAT