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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Gly593_Glu602delinsAlaThrGlyArgProSerTrpArgMet;Leu605_Phe609delinsGlyTrpProThrPro;Leu611_Asp616delinsProTrpProSerLeuArgThr;Val618Tyr;Trp620_Asp622delinsGlyGlnIle]
CA10585606
XM_011528010.2:c.1778del