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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.[Phe363_Asn365delinsLeuHisGlnProAla;His367_Asp375delinsGlyGlnGluAspAspAlaGlyProGlu;Ser377_Ile383delinsValHisGlnProHisProGln;Asn385_Leu386delinsGluGlu;Asn388_Ala391delinsGlyArgSer]
CA10585353
ENST00000560467.2:c.1085dup