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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Cys803_Leu804delinsSerTrp;Val806_Arg814delinsSerSerPheTyrGlyArgThrGlyGly;Lys816_Asn825delinsArgThrSerThrAlaSerThrLeuThrThr;Val827_Thr832delinsSerIleArgArgProGln]
CA2695228330
NM_001195798.2:c.2408del