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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Thr323_Cys324delinsArgVal;Gln326_Asn330delinsGlySerArgHis;Glu332_Cys339delinsGlnProAlaLeuArg;Glu341Pro;Phe343_Gln344delinsGlyTrp;Asp346_Cys352delinsGlnValProVal]
CA2695238674
ENST00000560467.2:c.949_967dup