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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.[Gln560_Leu565delinsHisProGlyProArgArg;Val567_Thr577delinsGlyCysGlyLeuAspProGlnGlnHisLeuLeu;Ser579_Leu581delinsArgLeuCysPro;Thr583_Asp588delinsHisCysLeuCysCysGlyTyr]
CA10585441
ENST00000252444.10:c.1673_1676dup