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"NP_001387266.1:p.Gln211_Asn413delinsAspHisTyrThrLeuLeuGluArgGlnIleIleIleGluAlaAsnAspArgHisLeuGluSerAlaGlyGlnThrGluIlePheArgLysHisProArgLysAlaSerIleLeuAsnMetProLeuValThrThrLeuPheTyrSerCysPheTyrHisTyrThrGluAlaGluGlyThrPheSerSerProValAsnLeuLysLysThrPheLysIleProAspLysGlnTyrValLeuThrAlaLeuAlaAlaArgAlaLysLeuArgAlaTrpAsnAspValAspAlaLeuPheThrThrLysAsnTrpLeuGlyTyrThrLysLysArgAlaProIleGlyPheHisArgValValGluIleLeuHisLysAsnAsnAlaProValGlnIleLeuGlnGluTyrValAsnLeuValGluAspValAspThrLysLeuAsnLeuAlaThrLysPheLysCysHisAspValValIleAspThrTyrArgAspLeuLysAspArgGlnGlnLeuLeuAlaTyrArgSerLysValAspLysGlySerAlaGluGluGluLysIleAspAlaLeuLeuSerSerSerGlnIleArgTrpLysAsnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS783689" }, { "coordinates": [ { "allele": "T", "end": 876, "referenceAllele": "C", "start": 875 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NM_001400338.1:c.769C>T" ], "proteinEffect": { "hgvs": 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"referenceSequence": "http://reg.genome.network/refseq/RS783691" }, { "coordinates": [ { "allele": "T", "end": 978, "referenceAllele": "C", "start": 977 } ], "gene": "http://reg.genome.network/gene/GN020347", "geneNCBI_id": 63894, "geneSymbol": "VIPAS39", "hgvs": [ "NR_174476.1:n.978C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS784919" } ], "type": "nucleotide" }