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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.[Leu107_His117delinsAspThrLeuArgGlyThrGlnGlnValGlnVal;Gly119_Cys134delinsGlnArgArgMetHisHisProGlyGlnSerLeuGlnHisGly]
CA2830773955
NM_001195800.2:c.313_313+1insTGAC