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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.[Asp415_Ser417delinsAla;Tyr419_Ile423delinsArgValHisGln;Asn425_Ala437delinsHisProGlnProGluGluArgGlyArg;Asn439_Asp445delinsGlyHisGlyGlyGlyGlnGln]
CA1139532853
NM_000527.5:c.1244_1245del