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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.[Phe801Ser;Cys803_Leu804delinsProGly;Val806_Phe807del;Leu809_Arg814delinsProSerMetGluGlu;Lys816_Thr831delinsAlaAla]
CA16602352
NM_001195798.2:c.2402_2403del