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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
ENSP00000252444.6:p.[Lys311_Cys317delinsAsnLeuThrArgLysThr;Val319_Arg323delinsLeuTrpPro;Asp325_Cys329delinsValAlaLeuThrAsn;Asp331_Gly337delinsSerAlaLeuMetGluThrAla;Arg339_Cys341delinsMetAlaAlaGlySer]
CA10585072
ENST00000252444.10:c.933del