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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Glu72_Asp77del;Lys79_Ser82delinsValSerLeuPro;Gln84_Phe85delinsTrpGlu;Cys87_Asp88delinsHisLeu;Asp90_Cys93delinsAlaValArg;Asp95_Ser101del]
CA9204948
NM_001195799.2:c.214dup