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"referenceSequence": "http://reg.genome.network/refseq/RS010462" }, { "coordinates": [ { "allele": "T", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_011530690.1:c.316C>T" ], "proteinEffect": { "hgvs": "XP_011528992.1:p.Gln106Ter", "hgvsWellDefined": "XP_011528992.1:p.Gln106_Ala423delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097733" }, { "coordinates": [ { "allele": "T", "end": 946, "referenceAllele": "C", "start": 945 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_011530691.1:c.574C>T" ], "proteinEffect": { "hgvs": "XP_011528993.1:p.Gln192Ter", "hgvsWellDefined": "XP_011528993.1:p.Gln192_Leu387delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysAlaLeuProThrValIleProLeuGlnThrLeuProAlaThrProProAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS097734" }, { "@id": "http://reg.genome.network/allele/PA2828065114", "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001362782.1:c.316C>T" ], "proteinEffect": { "hgvs": "NP_001349711.1:p.Gln106Ter", "hgvsWellDefined": "NP_001349711.1:p.Gln106_Ala423delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523060" }, { "coordinates": [ { "allele": "T", "end": 907, "referenceAllele": "C", "start": 906 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_011530691.3:c.574C>T" ], "proteinEffect": { "hgvs": "XP_011528993.1:p.Gln192Ter", "hgvsWellDefined": "XP_011528993.1:p.Gln192_Leu387delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysAlaLeuProThrValIleProLeuGlnThrLeuProAlaThrProProAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550069" }, { "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_017028800.1:c.574C>T" ], "proteinEffect": { "hgvs": "XP_016884289.1:p.Gln192Ter", "hgvsWellDefined": "XP_016884289.1:p.Gln192_Ala547delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlyAsnProSerProTrpIleProProProAspLeuLeuThrProProArgSerProArgSerLeuAlaProProLeuAlaLeuAlaLeuCysThrGluLeuAlaProSerProGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS578460" }, { "coordinates": [ { "allele": "T", "end": 787, "referenceAllele": "C", "start": 786 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "XM_024452241.1:c.574C>T" ], "proteinEffect": { "hgvs": "XP_024308009.1:p.Gln192Ter", "hgvsWellDefined": "XP_024308009.1:p.Gln192_Leu387delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysAlaLeuProThrValIleProLeuGlnThrLeuProAlaThrProProAlaLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS585738" }, { "@id": "http://reg.genome.network/allele/PA2825188689", "coordinates": [ { "allele": "T", "end": 947, "referenceAllele": "C", "start": 946 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_000487.6:c.574C>T" ], "proteinEffect": { "hgvs": "NP_000478.3:p.Gln192Ter", "hgvsWellDefined": "NP_000478.3:p.Gln192_Ala509delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662459", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000216124.10:c.574C>T" }, "RefSeq": { "hgvs": "NM_000487.6:c.574C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000216124.5:p.Gln192Ter" }, "RefSeq": { "hgvs": "NP_000478.3:p.Gln192Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2825518247", "coordinates": [ { "allele": "T", "end": 842, "referenceAllele": "C", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085425.3:c.574C>T" ], "proteinEffect": { "hgvs": "NP_001078894.2:p.Gln192Ter", "hgvsWellDefined": "NP_001078894.2:p.Gln192_Ala509delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676375" }, { "@id": "http://reg.genome.network/allele/PA2825518954", "coordinates": [ { "allele": "T", "end": 794, "referenceAllele": "C", "start": 793 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085426.3:c.574C>T" ], "proteinEffect": { "hgvs": "NP_001078895.2:p.Gln192Ter", "hgvsWellDefined": "NP_001078895.2:p.Gln192_Ala509delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676376" }, { "@id": "http://reg.genome.network/allele/PA2580138929", "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "C", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085427.3:c.574C>T" ], "proteinEffect": { "hgvs": "NP_001078896.2:p.Gln192Ter", "hgvsWellDefined": "NP_001078896.2:p.Gln192_Ala509delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676377" }, { "@id": "http://reg.genome.network/allele/PA2825519889", "coordinates": [ { "allele": "T", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001085428.3:c.316C>T" ], "proteinEffect": { "hgvs": "NP_001078897.1:p.Gln106Ter", "hgvsWellDefined": "NP_001078897.1:p.Gln106_Ala423delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676378" }, { "@id": "http://reg.genome.network/allele/PA2828065114", "coordinates": [ { "allele": "T", "end": 512, "referenceAllele": "C", "start": 511 } ], "gene": "http://reg.genome.network/gene/GN000713", "geneNCBI_id": 410, "geneSymbol": "ARSA", "hgvs": [ "NM_001362782.2:c.316C>T" ], "proteinEffect": { "hgvs": "NP_001349711.1:p.Gln106Ter", "hgvsWellDefined": "NP_001349711.1:p.Gln106_Ala423delinsProProTrpLeuProGlyLeuGluAlaArgTyrMetAlaPheAlaHisAspLeuMetAlaAspAlaGlnArgGlnAspArgProPhePheLeuTyrTyrAlaSerHisHisThrHisTyrProGlnPheSerGlyGlnSerPheAlaGluArgSerGlyArgGlyProPheGlyAspSerLeuMetGluLeuAspAlaAlaValGlyThrLeuMetThrAlaIleGlyAspLeuGlyLeuLeuGluGluThrLeuValIlePheThrAlaAspAsnGlyProGluThrMetArgMetSerArgGlyGlyCysSerGlyLeuLeuArgCysGlyLysGlyThrThrTyrGluGlyGlyValArgGluProAlaLeuAlaPheTrpProGlyHisIleAlaProGlyValThrHisGluLeuAlaSerSerLeuAspLeuLeuProThrLeuAlaAlaLeuAlaGlyAlaProLeuProAsnValThrLeuAspGlyPheAspLeuSerProLeuLeuLeuGlyThrGlyLysSerProArgGlnSerLeuPhePheTyrProSerTyrProAspGluValArgGlyValPheAlaValArgThrGlyLysTyrLysAlaHisPhePheThrGlnGlySerAlaHisSerAspThrThrAlaAspProAlaCysHisAlaSerSerSerLeuThrAlaHisGluProProLeuLeuTyrAspLeuSerLysAspProGlyGluAsnTyrAsnLeuLeuGlyGlyValAlaGlyAlaThrProGluValLeuGlnAlaLeuLysGlnLeuGlnLeuLeuLysAlaGlnLeuAspAlaAlaValThrPheGlyProSerGlnValAlaArgGlyGluAspProAlaLeuGlnIleCysCysHisProGlyCysThrProArgProAlaCysCysHisCysProAspProHisAlaTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS690538" } ], "type": "nucleotide" }