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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Arg681_His693delinsProSerTrpArgMetLysArgGlyTrpProThrProSer;Phe695delinsTrpPro;Ala698_Asp702delinsArgThr;Val704Tyr;Trp706_Glu712delinsGlyGlnIleSerSerThrLys]
CA10585610
ENST00000252444.10:c.2042_2048del