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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Ala735_Thr742delinsGlyGlnLeuHisSerArgLysAsp;Arg744_Asp748delinsAlaHisAsnHisPro;Thr749_Ser750insCys;Arg751_Leu752insHis;Gly754Ala;Thr756delinsTrpGlyHis;Gly758_Ile764delinsTrpAlaHisHisGlyGlyAsp]
CA10585803
NM_001195798.2:c.2191_2203dup