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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182732.1:p.[Pro575_Gly576del;Thr578_Pro579delinsTrp;Leu581_Met589delinsHisProTrpAlaHisHisGlyGlyAsp;His591_Gly599delinsAspAsnValSerProSerSerGlyArg;Gly601_Glu603delinsCysTrpGlnArg]
CA2497030105
NM_001195803.2:c.1722dup