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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.[Met384_Glu394delinsTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile396Ser;Glu398_Cys399delinsSerAla;Gly400_Thr401insPro;Glu403_His413delinsAlaTrpThrThrThrAlaAlaValProThr]
CA2017997786
ENST00000252444.10:c.1150del