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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000453513.2:p.[Asn97_Cys104delinsArgLeuArgArgAlaArgLeuSer;Pro106_Ile122delinsGlnAspValLeuProGlyArgValSerLeuProArgTrpGluValHisLeu;Arg124_Phe126delinsAlaValArg]
CA2497030111
ENST00000560467.2:c.289_290del