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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.[His117_Ser123delinsArgArgValSerLeuPro;Gln125_Phe126delinsTrpGlu;Cys128_Cys134delinsHis;Asp136_Gly137del;Asp139_Glu140del;Ser142_Val145delinsValArg]
CA2580096410
NM_001195798.2:c.334_349dup