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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.[Ser827_Gly835delinsPhePheLeuLeuTrpLysAsnTrpArg;Arg837_Thr846delinsLysAsnIleAsnSerIleAsnPheAspAsn;Ser848_Arg856delinsValTyrGlnLysThrThrGluAspGlu]
CA2573320459
ENST00000557933.5:c.2479dup