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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.[Cys308_Val319delinsProAlaAlaArgThrAsnLeuThrArgLysThr;Thr321_Arg323delinsLeuTrpPro;Asp325_Cys329delinsValAlaLeuThrAsn;Asp331_Gly337delinsSerAlaLeuMetGluThrAlaSerMet]
CA2573050580
ENST00000252444.10:c.921_922insCCCGC