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"ENSP00000486616.1:p.Ser162_Ser341delinsGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407459" }, { "@id": "http://reg.genome.network/allele/PA263689", "coordinates": [ { "allele": "G", "end": 808, "referenceAllele": "C", "start": 807 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_000086.2:c.485C>G", "LRG_689t1:c.485C>G" ], "proteinEffect": { "hgvs": "NP_000077.1:p.Ser162Ter", 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"http://reg.genome.network/allele/PA263690", "coordinates": [ { "allele": "G", "end": 844, "referenceAllele": "C", "start": 843 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.1:c.485C>G", "LRG_689t2:c.485C>G" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Ser162Ter", "hgvsWellDefined": 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"NP_001273038.1:p.Ser84_Ser360delinsGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022744" }, { "@id": "http://reg.genome.network/allele/PA2826706832", "coordinates": [ { "allele": "G", "end": 729, "referenceAllele": "C", "start": 728 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.1:c.323C>G" ], "proteinEffect": { "hgvs": "NP_001273039.1:p.Ser108Ter", "hgvsWellDefined": "NP_001273039.1:p.Ser108_Ser384delinsGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022745" }, { "@id": "http://reg.genome.network/allele/PA263690", "coordinates": [ { "allele": "G", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.2:c.485C>G" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Ser162Ter", "hgvsWellDefined": 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"nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.485C>G" }, "RefSeq": { "hgvs": "NM_001042432.2:c.485C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Ser162Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Ser162Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826704025", "coordinates": [ { "allele": "G", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.2:c.413C>G" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Ser138Ter", "hgvsWellDefined": "NP_001273033.1:p.Ser138_Ser414delinsGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682139" }, { "@id": "http://reg.genome.network/allele/PA2826704875", "coordinates": [ { "allele": "G", "end": 641, "referenceAllele": "C", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.2:c.185C>G" ], "proteinEffect": { "hgvs": "NP_001273034.1:p.Ser62Ter", "hgvsWellDefined": "NP_001273034.1:p.Ser62_Ser338delinsGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682140" }, { "@id": "http://reg.genome.network/allele/PA916014718", "coordinates": [ { "allele": "G", "end": 649, "referenceAllele": "C", "start": 648 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.2:c.251C>G" ], "proteinEffect": { "hgvs": "NP_001273038.1:p.Ser84Ter", "hgvsWellDefined": "NP_001273038.1:p.Ser84_Ser360delinsGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682141" }, { "@id": "http://reg.genome.network/allele/PA2826706832", "coordinates": [ { "allele": "G", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.2:c.323C>G" ], "proteinEffect": { "hgvs": "NP_001273039.1:p.Ser108Ter", "hgvsWellDefined": "NP_001273039.1:p.Ser108_Ser384delinsGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682142" } ], "type": "nucleotide" }