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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.[Cys190_Arg196delinsTrpLeuTrpPro;Asp198_Cys202delinsValAlaLeuThrAsn;Asp204_Gly210delinsSerAlaLeuMetGluThrAla;Arg212_Cys220delinsMetAlaAlaGlySerValThrGlyAsnMetThr]
CA2582473392
ENST00000535915.5:c.570del