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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[His493_Val495delinsProAla;Lys497_Leu500delinsGlyGlnGluAsp;Arg502_Ser503delinsAlaGlyPro;Tyr505_Ile509delinsArgValHisGlnProHis;Asn511_Glu521delinsGlnProGluGluArgGlyArgSerGlyHisGlyGly]
CA913188986
ENST00000252444.10:c.1472_1475dup