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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.[Lys66Arg;Cys68del;Gln70_Ile81delinsPheAlaAlaThrMetGlySerAlaSerLeuGlySer;Arg83_Phe85delinsSer;Cys87_Glu99delinsThrGlnThrGlyThrAlaTrpThrAlaGlnThrArg]
CA10584852
ENST00000535915.5:c.197_209del