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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.[Arg467_Phe471delinsLeuAsnGlyLys;Glu473_Asn474delinsTyrSer;Ser476_Gly488delinsArgThrAlaProSerGlnGlyProSerTrpTrpIleLeu;Tyr491_Trp492delinsAlaSerCys;Asp494_Trp495delinsGlyLeuThr;Gly496_Thr497insGlu]
CA10585491
NM_001195799.2:c.1399delinsCTGAAT