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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.[Val765_Arg773delinsGlySerSerPheTyrGlyArgThrGlyGly;Lys775_Asn784delinsArgThrSerThrAlaSerThrLeuThrThr;Val786_Glu794delinsSerIleArgArgProGlnArgMetArg]
CA2695228332
NM_001195799.2:c.2292_2293dup