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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182729.1:p.[Pro585_Gly586delinsAla;Thr588_Pro589delinsTrp;Leu591_Met599delinsHisProTrpAlaHisHisGlyGlyAsp;His601_Gly609delinsAspAsnValSerProSerSerGlyArg;Gly611_Glu613delinsCysTrpGlnArg]
CA16609821
NM_001195800.2:c.1749_1752dup