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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Leu768del;Pro771Asp;Ile773_Asn774delinsPro;His776_Cys784delinsLeuAlaGlnValTyrLeuArgLeu;Asp786del;Met788_Leu790delinsArgHisAla;Arg792_Cys797delinsGlyGlnGlyHisGluGlu;Thr799_Glu800delinsProHisArg]
CA2695228172
ENST00000252444.10:c.2303_2310del