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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453346.1:p.[Val806_Arg814delinsArgSerSerPheTyrGlyArgThrGlyGly;Lys816_Asn825delinsArgThrSerThrAlaSerThrLeuThrThr;Val827_Val836delinsSerIleArgArgProGlnArgMetArg]
CA2573050627
ENST00000558013.5:c.2416_2418delinsAGAAG