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"NP_861546.1:p.Gln362_Ile590delinsMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701021" }, { "@id": "http://reg.genome.network/allele/PA2830394354", "coordinates": [ { "allele": "T", "end": 1324, "referenceAllele": "C", "start": 1323 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181828.3:c.958C>T" ], "proteinEffect": { "hgvs": "NP_861966.1:p.Gln320Ter", "hgvsWellDefined": "NP_861966.1:p.Gln320_Ile548delinsMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701022" }, { "@id": "http://reg.genome.network/allele/PA2830396878", "coordinates": [ { "allele": "T", "end": 1327, "referenceAllele": "C", "start": 1326 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181829.3:c.961C>T" ], "proteinEffect": { "hgvs": "NP_861967.1:p.Gln321Ter", "hgvsWellDefined": "NP_861967.1:p.Gln321_Ile549delinsMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701023" }, { "@id": "http://reg.genome.network/allele/PA2830399025", "coordinates": [ { "allele": "T", "end": 1201, "referenceAllele": "C", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181830.3:c.835C>T" ], "proteinEffect": { "hgvs": "NP_861968.1:p.Gln279Ter", "hgvsWellDefined": "NP_861968.1:p.Gln279_Ile507delinsMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701024" }, { "@id": "http://reg.genome.network/allele/PA2830401335", "coordinates": [ { "allele": "T", "end": 1201, "referenceAllele": "C", "start": 1200 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181831.3:c.835C>T" ], "proteinEffect": { "hgvs": "NP_861969.1:p.Gln279Ter", "hgvsWellDefined": "NP_861969.1:p.Gln279_Ile507delinsMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701025" }, { "@id": "http://reg.genome.network/allele/PA2580550127", "coordinates": [ { "allele": "T", "end": 1450, "referenceAllele": "C", "start": 1449 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181832.3:c.1084C>T" ], "proteinEffect": { "hgvs": "NP_861970.1:p.Gln362Ter", "hgvsWellDefined": "NP_861970.1:p.Gln362_Ile590delinsMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS701026" }, { "coordinates": [ { "allele": "T", "end": 1566, "referenceAllele": "C", "start": 1565 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NR_156186.2:n.1566C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704957" }, { "coordinates": [ { "allele": "T", "end": 813, "endIntronDirection": "-", "endIntronOffset": 22841, "referenceAllele": "C", "start": 813, "startIntronDirection": "-", "startIntronOffset": 22842 } ], "gene": "http://reg.genome.network/gene/GN007773", "geneNCBI_id": 4771, "geneSymbol": "NF2", "hgvs": [ "NM_181833.3:c.448-22842C>T" ], "proteinEffect": { "hgvs": "NP_861971.1:n.448-22842C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS729746" } ], "type": "nucleotide" }