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"NP_001157749.1:p.Trp330_Glu429delinsIleLeuValLeuGlyAlaValPheGlyPheSerSerTyrGlyProIleAlaLeuPheGlyValIleAlaAsnGluSerAlaProProAsnLeuCysGlyThrSerHisAlaIleValGlyLeuMetAlaAsnValGlyGlyPheLeuAlaGlyLeuProPheSerThrIleAlaLysHisTyrSerTrpSerThrAlaPheTrpValAlaGluValIleCysAlaAlaSerThrAlaAlaPhePheLeuLeuArgAsnIleArgThrLysMetGlyArgValSerLysLysAlaGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713070", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000642844.3:c.989G>A" }, "RefSeq": { "hgvs": "NM_001164277.2:c.989G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000493469.1:p.Trp330Ter" }, "RefSeq": { "hgvs": "NP_001157749.1:p.Trp330Ter" } } } } ], "type": "nucleotide" }