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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.[Lys107Arg;Cys109del;Gln111_Ile122delinsPheAlaAlaThrMetGlySerAlaSerLeuGlySer;Arg124_Phe126delinsSer;Cys128_Glu140delinsThrGlnThrGlyThrAlaTrpThrAlaGlnThrArg]
CA10584852
ENST00000560467.2:c.320_332del