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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Gly314_Thr315insPro;Glu317_Glu337delinsAlaTrpThrThrThrAlaAlaValProThrSerAlaMetThrLeuArgSerAlaThrSerAla;Leu339_Cys340delinsAla;Asp342_Phe344delinsThrAlaSer]
CA2497030140
NM_001195798.2:c.943del