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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453557.1:p.[Gln739_His740delinsSer;Thr742_Arg744delinsGln;Val746del;Thr749_Leu752delinsLeuPheProThr;Gly754_Pro757delinsProGlyCysLeu;Leu759_Ser768delinsProProLeuGlySerProArgTrpArg]
CA1139768693
ENST00000557933.5:c.2214del