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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Gln474_Leu479delinsHisProGlyProArgArg;Val481_Thr491delinsGlyCysGlyLeuAspProGlnGlnHisLeuLeu;Ser493_Leu495delinsArgLeuCysPro;Thr497_Ala501delinsHisCysLeuCysCys]
CA645509280
ENST00000557933.5:c.1413_1414delinsGGACAT