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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.[Ile358_Tyr360delinsThrLeuPro;Phe362_Val369delinsLeuHisGlnProAla;Lys371_Leu374delinsGlyGlnGluAsp;Arg376_Ser377delinsAlaGlyPro;Tyr379_Ile383delinsArgValHisGlnProHis;Asn385_Asn388delinsGlnProGluGlu]
CA2497030059
ENST00000560467.2:c.1073_1075delinsC