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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Arg468_His480delinsProSerTrpArgMetLysArgGlyTrpProThrProSer;Phe482delinsTrpPro;Ala485_Asp489delinsArgThr;Val491Tyr;Trp493_Glu499delinsGlyGlnIleSerSerThrLys]
CA10585610
NM_001195803.2:c.1403_1409del