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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[His388_Val395delinsProHisGluGlyLeuGlnGlyCys;Ser397_Tyr400delinsLeuHisArg;Phe402_Val409delinsProLeuLeuHisGlnProAla;Lys411_Leu414delinsGlyGlnGluAsp;Arg416_Ser417delinsAlaGlyProGlu]
CA645373249
ENST00000558518.6:c.1162dup