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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.[Arg595_His607delinsProSerTrpArgMetLysArgGlyTrpProThrProSer;Phe609delinsTrpPro;Ala612_Asp616delinsArgThr;Val618Tyr;Trp620_Glu626delinsGlyGlnIleSerSerThrLys]
CA10585610
NM_001195798.2:c.1784_1790del