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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Glu849_Met853delinsGlyAsp;His855_Gly859del;Val861_Gly865del;Glu867_Lys869delinsValSer;Val873Gly;Ala875_Ile878delinsArgCysTrpGlnArgLys]
CA16602349
ENST00000252444.10:c.2545dup