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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Val168_Glu181delinsSerAlaThrTrpLeuGluThrAlaGlyThrGlyGlnMetAsn;Ile183Ser;Glu185_Cys186delinsSerAla;Gly187_Thr188insPro;Glu190_Gly197delinsAlaTrpThrThrThrAlaAla]
CA1139666261
NM_001195803.2:c.502del