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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182727.1:p.[Glu179_Tyr188delinsGlySerGluSerGlyArgSerAlaValGly;Gln191_Asp193delinsThrCys;Ser195_Ser198delinsLysGlyThrVal;Phe200_Leu205delinsProAlaArgProSerSer;Gly207_Glu208delinsThrAla]
CA645509259
NM_001195798.2:c.535_536insGCTCGGAG