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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000454071.1:p.[Val806_Arg814delinsSerSerPheTyrGlyArgThrGlyGly;Lys816_Asn825delinsArgThrSerThrAlaSerThrLeuThrThr;Val827_Glu835delinsSerIleArgArgProGlnArgMetArg]
CA10585859
ENST00000558518.6:c.2416del