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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.[Asp579_Ile585delinsValProAsnPheThrPro;Ser587_Gly592delinsGlnAlaSerMetSerThr;Asn594_Glu602delinsAlaThrGlyArgProSerTrpArgMet;Leu605_Phe609delinsGlyTrpProThrPro]
CA645373241
NM_001195798.2:c.1736_1737delinsT