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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.[Gly754_Thr756delinsTrpGlyHis;Gly758_Leu772delinsTrpAlaHisHisGlyGlyAspSerAspAsnValSerProSerSer;Asp774_Gly777delinsArg;Gly779_Lys782delinsCysTrpGlnArg]
CA645509295
NM_001195798.2:c.2259dup