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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Thr672_Thr680delinsLysArgLeuArgLeu;Glu682_Val686delinsTrpProProArg;Leu688_Val690delinsHisProPro;Ser692_Thr701delinsGly]
CA783248549
NM_001195799.2:c.2015del