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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.[Thr469_Lys477delinsSerTyrSerGlyArgThrAla;Arg479_Gly488delinsSerGlnGlyProSerTrpTrpIleLeu;Tyr491_Trp492delinsAlaSerCys;Asp494_Trp495delinsGlyLeuThr;Thr497delinsGluLeu]
CA16602331
ENST00000535915.5:c.1406del