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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Leu631_Phe633delinsPro;Cys635_Leu636delinsProGly;Val638_Phe639del;Leu641_Arg646delinsProSerMetGluGlu;Lys648_Lys662delinsAlaAla]
CA645509299
ENST00000455727.6:c.1890_1897del