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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.[Val638_Arg646delinsArgSerSerPheTyrGlyArgThrGlyGly;Lys648_Asn657delinsArgThrSerThrAlaSerThrLeuThrThr;Val659_Val668delinsSerIleArgArgProGlnArgMetArg]
CA2573050627
NM_001195800.2:c.1912_1914delinsAGAAG