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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Phe235_Asn237delinsLeuHisGlnProAla;His239_Asp247delinsGlyGlnGluAspAspAlaGlyProGlu;Ser249_Ile255delinsValHisGlnProHisProGln;Asn257_Leu258delinsGluGlu;Asn260_Ala263delinsGlyArgSer]
CA10585353
ENST00000455727.6:c.701dup