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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000440520.1:p.[Gln698_His699delinsSer;Thr701_Arg703delinsGln;Val705del;Thr708_Leu711delinsLeuPheProThr;Gly713_Pro716delinsProGlyCysLeu;Leu718_Ser727delinsProProLeuGlySerProArgTrpArg]
CA1139768693
ENST00000535915.5:c.2091del