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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.[Gln347_Leu352delinsHisProGlyProArgArg;Val354_Thr364delinsGlyCysGlyLeuAspProGlnGlnHisLeuLeu;Ser366_Leu368delinsArgLeuCysPro;Thr370_Asp375delinsHisCysLeuCysCysGlyTyr]
CA10585441
ENST00000545707.5:c.1034_1037dup