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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.[Lys225_Cys231delinsAsnLeuThrArgLysThr;Val233_Arg237delinsLeuTrpPro;Asp239_Cys243delinsValAlaLeuThrAsn;Asp245_Gly251delinsSerAlaLeuMetGluThrAla;Arg253_Cys255delinsMetAlaAlaGlySer]
CA10585072
ENST00000560467.2:c.675del