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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[His348_Val355delinsProHisGluGlyLeuGlnGlyCys;Ser357_Tyr360delinsLeuHisArg;Phe362_Val369delinsProLeuLeuHisGlnProAla;Lys371_Leu374delinsGlyGlnGluAsp;Arg376_Ser377delinsAlaGlyProGlu]
CA645373249
ENST00000560467.2:c.1042dup