{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA397089321",
  "communityStandardTitle": [
    "NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1036379[alleleid]",
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        "preferredName": "NM_000512.5(GALNS):c.265G>T (p.Gly89Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1048448",
        "RCV": [
          "RCV001578549"
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        "variationId": 1048448
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr16:g.88908359C>A?assembly=hg19",
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    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr16:g.88841951C>A?assembly=hg38",
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1160480473",
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    },
    {
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      "referenceSequence": "http://reg.genome.network/refseq/RS061259"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090123"
    },
    {
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      "proteinEffect": {
        "hgvs": "XP_011521286.1:p.Gly95Ter",
        "hgvsWellDefined": "XP_011521286.1:p.Gly95_Thr508delinsArgLeuProIleArgAsnGlyPheTyrThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 234,
          "referenceAllele": "G",
          "start": 233
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.1:c.-291G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.-291G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515441"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249060",
      "coordinates": [
        {
          "allele": "T",
          "end": 528,
          "referenceAllele": "G",
          "start": 527
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.1:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Gly95Ter",
        "hgvsWellDefined": "NP_001310473.1:p.Gly95_His528delinsArgLeuProIleArgAsnGlyPheTyrThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS515442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 354,
          "referenceAllele": "G",
          "start": 353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_005256301.3:c.265G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005256358.1:p.Gly89Ter",
        "hgvsWellDefined": "XP_005256358.1:p.Gly89_Pro575delinsArgLeuProIleArgAsnGlyPheTyrThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534454"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 400,
          "referenceAllele": "G",
          "start": 399
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_011522982.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011521284.1:p.Gly95Ter",
        "hgvsWellDefined": "XP_011521284.1:p.Gly95_Pro581delinsArgLeuProIleArgAsnGlyPheTyrThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAlaProThrGlnSerSerThrSerValGlnProAspLysThrArgProCysSerProProValGluLysArgProHisHisAlaSerIleGlyGlnLysHisLysHisArgArgAlaSerLysValSerLeuLysSerValPheArgProGlnArgMetArgArgArgLeuValGlnProTrpGlyProGlnGlnSerGlyProLeuArgSerSerPheSerValProCysLeuGlyValProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS546838"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023111.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878600.1:p.Gly95Ter",
        "hgvsWellDefined": "XP_016878600.1:p.Gly95_Leu511delinsArgLeuProIleArgAsnGlyPheTyrThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetGlyProCysAspAspLeuGlnThrProGlyLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2685,
          "referenceAllele": "G",
          "start": 2684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023112.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878601.1:p.Gly95Ter",
        "hgvsWellDefined": "XP_016878601.1:p.Gly95_Thr508delinsArgLeuProIleArgAsnGlyPheTyrThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetProGlnArgProSerHisGlnThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 212,
          "referenceAllele": "G",
          "start": 211
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "XM_017023113.1:c.-291G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016878602.1:n.-291G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS573928"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825204319",
      "coordinates": [
        {
          "allele": "T",
          "end": 335,
          "referenceAllele": "G",
          "start": 334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_000512.5:c.265G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000503.1:p.Gly89Ter",
        "hgvsWellDefined": "NP_000503.1:p.Gly89_His522delinsArgLeuProIleArgAsnGlyPheTyrThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662466",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268695.10:c.265G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000512.5:c.265G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268695.5:p.Gly89Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000503.1:p.Gly89Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 211,
          "referenceAllele": "G",
          "start": 210
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323543.2:c.-291G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310472.1:n.-291G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686042"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499249060",
      "coordinates": [
        {
          "allele": "T",
          "end": 505,
          "referenceAllele": "G",
          "start": 504
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004122",
      "geneNCBI_id": 2588,
      "geneSymbol": "GALNS",
      "hgvs": [
        "NM_001323544.2:c.283G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001310473.1:p.Gly95Ter",
        "hgvsWellDefined": "NP_001310473.1:p.Gly95_His528delinsArgLeuProIleArgAsnGlyPheTyrThrThrAsnAlaHisAlaArgAsnAlaTyrThrProGlnGluIleValGlyGlyIleProAspSerGluGlnLeuLeuProGluLeuLeuLysLysAlaGlyTyrValSerLysIleValGlyLysTrpHisLeuGlyHisArgProGlnPheHisProLeuLysHisGlyPheAspGluTrpPheGlySerProAsnCysHisPheGlyProTyrAspAsnLysAlaArgProAsnIleProValTyrArgAspTrpGluMetValGlyArgTyrTyrGluGluPheProIleAsnLeuLysThrGlyGluAlaAsnLeuThrGlnIleTyrLeuGlnGluAlaLeuAspPheIleLysArgGlnAlaArgHisHisProPhePheLeuTyrTrpAlaValAspAlaThrHisAlaProValTyrAlaSerLysProPheLeuGlyThrSerGlnArgGlyArgTyrGlyAspAlaValArgGluIleAspAspSerIleGlyLysIleLeuGluLeuLeuGlnAspLeuHisValAlaAspAsnThrPheValPhePheThrSerAspAsnGlyAlaAlaLeuIleSerAlaProGluGlnGlyGlySerAsnGlyProPheLeuCysGlyLysGlnThrThrPheGluGlyGlyMetArgGluProAlaLeuAlaTrpTrpProGlyHisValThrAlaGlyGlnValSerHisGlnLeuGlySerIleMetAspLeuPheThrThrSerLeuAlaLeuAlaGlyLeuThrProProSerAspArgAlaIleAspGlyLeuAsnLeuLeuProThrLeuLeuGlnGlyArgLeuMetAspArgProIlePheTyrTyrArgGlyAspThrLeuMetAlaAlaThrLeuGlyGlnHisLysAlaHisPheTrpThrTrpThrAsnSerTrpGluAsnPheArgGlnGlyIleAspPheCysProGlyGlnAsnValSerGlyValThrThrHisAsnLeuGluAspHisThrLysLeuProLeuIlePheHisLeuGlyArgAspProGlyGluArgPheProLeuSerPheAlaSerAlaGluTyrGlnGluAlaLeuSerArgIleThrSerValValGlnGlnHisGlnGluAlaLeuValProAlaGlnProGlnLeuAsnValCysAsnTrpAlaValMetAsnTrpAlaProProGlyCysGluLysLeuGlyLysCysLeuThrProProGluSerIleProLysLysCysLeuTrpSerHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS686043"
    }
  ],
  "type": "nucleotide"
}