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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.[Ile361_Leu368delinsThrLeuLeuAspArgLeuCysPro;Thr370_Lys377delinsHisCysLeuCysCysGlyTyrGln;Val379_Ser390delinsArgGluGluGluAsnValIleGlnGlyGluArgLeu]
CA658799139
ENST00000545707.5:c.1081_1082insC