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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.[Phe361_Asn364delinsLeuHisGlnProAla;His366_Asp374delinsGlyGlnGluAspAspAlaGlyProGlu;Ser376_Ile382delinsValHisGlnProHisProGln;Asn384_Leu385delinsGluGlu;Asn387_Ala390delinsGlyArgSer]
CA16609814
NM_001195799.2:c.1081_1082del