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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Gln433_Leu438delinsHisProGlyProArgArg;Val440_Thr450delinsGlyCysGlyLeuAspProGlnGlnHisLeuLeu;Ser452_Leu454delinsArgLeuCysPro;Thr456_Ala460delinsHisCysLeuCysCys]
CA645509280
NM_001195799.2:c.1290_1291delinsGGACAT