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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_Arg646delinsSerSerPheTyrGlyArgThrGlyGly;Lys648_Asn657delinsArgThrSerThrAlaSerThrLeuThrThr;Val659_Glu667delinsSerIleArgArgProGlnArgMetArg]
CA10585859
NM_001195800.2:c.1912del