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"ENSP00000454680.1:p.Tyr124_Met253delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnMetGluSerArgSerValAlaGlnAlaGlyMetTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381191" }, { "coordinates": [ { "allele": "G", "end": 1192, "referenceAllele": "C", "start": 1191 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000569430.5:c.372C>G" ], "proteinEffect": { "hgvs": "ENSP00000454229.1:p.Tyr124Ter", "hgvsWellDefined": "ENSP00000454229.1:p.Tyr124_Ser438delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS381468" }, { "coordinates": [ { "allele": "G", "end": 545, "endIntronDirection": "+", "endIntronOffset": 1626, "referenceAllele": "C", "start": 545, "startIntronDirection": "+", "startIntronOffset": 1625 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000628023.2:c.222+1626C>G" ], "proteinEffect": { "hgvs": "ENSP00000486178.1:n.222+1626C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS406979" }, { "coordinates": [ { "allele": "G", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "ENST00000631023.2:c.372C>G" ], "proteinEffect": { "hgvs": "ENSP00000486616.1:p.Tyr124Ter", "hgvsWellDefined": "ENSP00000486616.1:p.Tyr124_Ser341delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407459" }, { "@id": "http://reg.genome.network/allele/PA2825052645", "coordinates": [ { "allele": "G", "end": 695, "referenceAllele": "C", "start": 694 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_000086.2:c.372C>G", "LRG_689t1:c.372C>G" ], "proteinEffect": { "hgvs": "NP_000077.1:p.Tyr124Ter", "hgvsWellDefined": "NP_000077.1:p.Tyr124_Ser438delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006150" }, { "@id": "http://reg.genome.network/allele/PA2825401723", "coordinates": [ { "allele": "G", "end": 731, "referenceAllele": "C", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.1:c.372C>G", "LRG_689t2:c.372C>G" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Tyr124Ter", "hgvsWellDefined": "NP_001035897.1:p.Tyr124_Ser438delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS009690" }, { "@id": "http://reg.genome.network/allele/PA2826703926", "coordinates": [ { "allele": "G", "end": 659, "referenceAllele": "C", "start": 658 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.1:c.300C>G" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Tyr100Ter", "hgvsWellDefined": "NP_001273033.1:p.Tyr100_Ser414delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022739" }, { "coordinates": [ { "allele": "G", "end": 538, "endIntronDirection": "-", "endIntronOffset": 122, "referenceAllele": "C", "start": 538, "startIntronDirection": "-", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.1:c.75-123C>G" ], "proteinEffect": { "hgvs": "NP_001273034.1:n.75-123C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS022740" }, { "@id": "http://reg.genome.network/allele/PA2826705653", "coordinates": [ { "allele": "G", "end": 544, "referenceAllele": "C", "start": 543 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.1:c.138C>G" ], "proteinEffect": { "hgvs": "NP_001273038.1:p.Tyr46Ter", "hgvsWellDefined": "NP_001273038.1:p.Tyr46_Ser360delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022744" }, { "@id": "http://reg.genome.network/allele/PA2741854075", "coordinates": [ { "allele": "G", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.1:c.210C>G" ], "proteinEffect": { "hgvs": "NP_001273039.1:p.Tyr70Ter", "hgvsWellDefined": "NP_001273039.1:p.Tyr70_Ser384delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS022745" }, { "@id": "http://reg.genome.network/allele/PA2825401723", "coordinates": [ { "allele": "G", "end": 503, "referenceAllele": "C", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001042432.2:c.372C>G" ], "proteinEffect": { "hgvs": "NP_001035897.1:p.Tyr124Ter", "hgvsWellDefined": "NP_001035897.1:p.Tyr124_Ser438delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676015", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000636147.2:c.372C>G" }, "RefSeq": { "hgvs": "NM_001042432.2:c.372C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000490105.1:p.Tyr124Ter" }, "RefSeq": { "hgvs": "NP_001035897.1:p.Tyr124Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826703926", "coordinates": [ { "allele": "G", "end": 431, "referenceAllele": "C", "start": 430 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286104.2:c.300C>G" ], "proteinEffect": { "hgvs": "NP_001273033.1:p.Tyr100Ter", "hgvsWellDefined": "NP_001273033.1:p.Tyr100_Ser414delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682139" }, { "coordinates": [ { "allele": "G", "end": 530, "endIntronDirection": "-", "endIntronOffset": 122, "referenceAllele": "C", "start": 530, "startIntronDirection": "-", "startIntronOffset": 123 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286105.2:c.75-123C>G" ], "proteinEffect": { "hgvs": "NP_001273034.1:n.75-123C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS682140" }, { "@id": "http://reg.genome.network/allele/PA2826705653", "coordinates": [ { "allele": "G", "end": 536, "referenceAllele": "C", "start": 535 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286109.2:c.138C>G" ], "proteinEffect": { "hgvs": "NP_001273038.1:p.Tyr46Ter", "hgvsWellDefined": "NP_001273038.1:p.Tyr46_Ser360delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682141" }, { "@id": "http://reg.genome.network/allele/PA2741854075", "coordinates": [ { "allele": "G", "end": 608, "referenceAllele": "C", "start": 607 } ], "gene": "http://reg.genome.network/gene/GN002074", "geneNCBI_id": 1201, "geneSymbol": "CLN3", "hgvs": [ "NM_001286110.2:c.210C>G" ], "proteinEffect": { "hgvs": "NP_001273039.1:p.Tyr70Ter", "hgvsWellDefined": "NP_001273039.1:p.Tyr70_Ser384delinsSerProArgValLeuValSerGlyIleCysAlaAlaGlySerPheValLeuValAlaPheSerHisSerValGlyThrSerLeuCysGlyValValPheAlaSerIleSerSerGlyLeuGlyGluValThrPheLeuSerLeuThrAlaPheTyrProArgAlaValIleSerTrpTrpSerSerGlyThrGlyGlyAlaGlyLeuLeuGlyAlaLeuSerTyrLeuGlyLeuThrGlnAlaGlyLeuSerProGlnGlnThrLeuLeuSerMetLeuGlyIleProAlaLeuLeuLeuAlaSerTyrPheLeuLeuLeuThrSerProGluAlaGlnAspProGlyGlyGluGluGluAlaGluSerAlaAlaArgGlnProLeuIleArgThrGluAlaProGluSerLysProGlySerSerSerSerLeuSerLeuArgGluArgTrpThrValPheLysGlyLeuLeuTrpTyrIleValProLeuValValValTyrPheAlaGluTyrPheIleAsnGlnGlyLeuPheGluLeuLeuPhePheTrpAsnThrSerLeuSerHisAlaGlnGlnTyrArgTrpTyrGlnMetLeuTyrGlnAlaGlyValPheAlaSerArgSerSerLeuArgCysCysArgIleArgPheThrTrpAlaLeuAlaLeuLeuGlnCysLeuAsnLeuValPheLeuLeuAlaAspValTrpPheGlyPheLeuProSerIleTyrLeuValPheLeuIleIleLeuTyrGluGlyLeuLeuGlyGlyAlaAlaTyrValAsnThrPheHisAsnIleAlaLeuGluThrSerAspGluHisArgGluPheAlaMetAlaAlaThrCysIleSerAspThrLeuGlyIleSerLeuSerGlyLeuLeuAlaLeuProLeuHisAspPheLeuCysGlnLeuSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682142" } ], "type": "nucleotide" }