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Canonical Allele Identifier: Get Identifier
Gene: LDLR HGNC NCBI

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
XP_011526313.1:p.[Thr108_Arg110del;Asp112_Cys116delinsValAlaLeuThrAsn;Asp118_Gly124delinsSerAlaLeuMetGluThrAla;Arg126_Met137delinsMetAlaAlaGlySerValThrGlyAsnMetThrAlaArgThr]
CA645509267
XM_011528011.1:c.321del