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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.[Asp180_Cys190delinsTrpThrAlaArgThrAsnLeuThrArgLysThr;Val192_His209delinsLeuTrpProProValAlaLeuThrAsnSerSerAlaLeuMetGluThrAlaSer]
CA358877
NM_001195799.2:c.537_538insTG