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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.[Val395del;Ser397_Tyr400delinsLeuHisArg;Phe402_Val409delinsProLeuLeuHisGlnProAla;Lys411_Leu414delinsGlyGlnGluAsp;Arg416_Ser417delinsAlaGlyPro;Tyr419_Ile423delinsArgValHisGlnProHis;Asn425Gln]
CA16609812
NM_001195798.2:c.1184_1185del