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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Arg26_Glu28delinsMet;Asn30_Trp44delinsLysLysArgValProValProArgArgGluMetHisLeuLeuGln;Cys46_Asp47del;Ser49_Cys52delinsLeuArgTrp;Asp54_Ser56delinsArg]
CA10584745
NM_001195800.2:c.77_78del