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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526312.1:p.[Phe775_Leu778delinsSerPheAlaTrp;Val780_Arg788delinsSerSerPheTyrGlyArgThrGlyGly;Lys790_Asn799delinsArgThrSerThrAlaSerThrLeuThrThr;Val801_Lys804delinsSerIleArgArg]
CA645509301
XM_011528010.2:c.2324del