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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Val679_Arg687delinsGlySerSerPheTyrGlyArgThrGlyGly;Lys689_Asn698delinsArgThrSerThrAlaSerThrLeuThrThr;Val700_Glu708delinsSerIleArgArgProGlnArgMetArg]
CA2695228332
XM_011528011.1:c.2034_2035dup