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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Arg78_Trp87delinsProCysGlnProLeuHisSerSerValLeuGluVal;Cys89_Gly103delinsTrpProSerGlyLeuArgGlnArgLeuArgArgAlaArgLeuSer;Pro105_Val106delinsGly]
CA10584799
NM_001195803.2:c.230dup