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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Pro712_Gly713del;Thr715_Pro716delinsTrp;Leu718_Met726delinsHisProTrpAlaHisHisGlyGlyAsp;His728_Gly736delinsAspAsnValSerProSerSerGlyArg;Gly738_Glu740delinsCysTrpGlnArg]
CA2497030105
ENST00000535915.5:c.2133dup