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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.[Thr713_Thr721delinsLysArgLeuArgLeu;Glu723_Val727delinsTrpProProArg;Leu729_Val731delinsHisProPro;Ser733_Thr742delinsGly]
CA783248549
NM_001195798.2:c.2138del