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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001182728.1:p.[Phe766_Arg773delinsAlaSerPheTyrGlyArgThrGlyGly;Lys775_Asn784delinsArgThrSerThrAlaSerThrLeuThrThr;Val786_Glu794delinsSerIleArgArgProGlnArgMetArg]
CA10585862
NM_001195799.2:c.2294_2295insGG