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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000437639.1:p.[Gly576_Thr578delinsTrpGlyHis;Gly580_Leu594delinsTrpAlaHisHisGlyGlyAspSerAspAsnValSerProSerSer;Asp596_Gly599delinsArg;Gly601_Lys604delinsCysTrpGlnArg]
CA645509295
ENST00000545707.5:c.1725dup