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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000397829.2:p.[Ser623_Leu626delinsCysProLeuSerSer;Ile628_Leu636delinsSerCysSerSerSerSerPheAlaTrp;Val638_Arg646delinsSerSerPheTyrGlyArgThrGlyGly;Lys648_Asn651delinsArgThrSerThr]
CA645372642
ENST00000455727.6:c.1864_1865dup