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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Phe623Ser;Cys625_Leu626delinsProGly;Val628_Phe629del;Leu631_Arg636delinsProSerMetGluGlu;Lys638_Thr653delinsAlaAla]
CA16602352
NM_001195803.2:c.1868_1869del