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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Pro626_Gly627del;Thr629_Pro630delinsTrp;Leu632_Met640delinsHisProTrpAlaHisHisGlyGlyAsp;His642_Gly650delinsAspAsnValSerProSerSerGlyArg;Gly652_Glu654delinsCysTrpGlnArg]
CA2497030105
XM_011528011.1:c.1875dup