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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Gln807_Asp810delinsSerCysValThrGlu;Cys813_Leu814del;Leu816_Trp825delinsProTyrSerAlaProArgLeuProLeuPro;Ser827_Leu836delinsGlyLeuProSerMetGluGluLeuAlaAla]
CA2582476505
ENST00000557933.5:c.2418del