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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.[Phe633Ser;Cys635_Leu636delinsProGly;Val638_Phe639del;Leu641_Arg646delinsProSerMetGluGlu;Lys648_Thr663delinsAlaAla]
CA16602352
NM_001195800.2:c.1898_1899del