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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.[Ser41_Trp44delinsLeuLeuGln;Cys46_Asp47del;Ser49_Cys52delinsLeuArgTrp;Asp54_Gly55delinsArg;Asp57_Ser70del]
CA2739291175
NM_001195798.2:c.119dup