{
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  "@id": "http://reg.genome.network/allele/CA349702534",
  "communityStandardTitle": [
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        "RCV": [
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        "@id": "http://myvariant.info/v1/variant/chr2:g.178301740G>T?assembly=hg19",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/2468548402",
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    {
      "chromosome": "2",
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      "referenceSequence": "http://reg.genome.network/refseq/RS766761"
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      "referenceSequence": "http://reg.genome.network/refseq/RS779090"
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        "hgvsWellDefined": "XP_011510343.1:p.Glu109_Leu568delinsGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 591,
          "referenceAllele": "G",
          "start": 590
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512042.1:c.325G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510344.1:p.Glu109Ter",
        "hgvsWellDefined": "XP_011510344.1:p.Glu109_Leu568delinsGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079301"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512044.1:c.595G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510346.1:p.Glu199Ter",
        "hgvsWellDefined": "XP_011510346.1:p.Glu199_Tyr341delinsGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuCysTyrArgAlaGluAlaHisArgTyrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079303"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512045.1:c.595G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510347.1:p.Glu199Ter",
        "hgvsWellDefined": "XP_011510347.1:p.Glu199_Val336delinsGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuGluLeuLeuValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS079304"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 424,
          "referenceAllele": "G",
          "start": 423
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512041.2:c.325G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510343.1:p.Glu109Ter",
        "hgvsWellDefined": "XP_011510343.1:p.Glu109_Leu568delinsGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542393"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 29,
          "referenceAllele": "G",
          "start": 28
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XM_011512043.2:c.-1340G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011510345.1:n.-1340G>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS542394"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "XR_001739007.2:n.612G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS589420"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741905033",
      "coordinates": [
        {
          "allele": "T",
          "end": 612,
          "referenceAllele": "G",
          "start": 611
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000327",
      "geneNCBI_id": 8540,
      "geneSymbol": "AGPS",
      "hgvs": [
        "NM_003659.4:c.595G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003650.1:p.Glu199Ter",
        "hgvsWellDefined": "NP_003650.1:p.Glu199_Leu658delinsGlyMetPheGluArgIleProAspIleValLeuTrpProThrCysHisAspAspValValLysIleValAsnLeuAlaCysLysTyrAsnLeuCysIleIleProIleGlyGlyGlyThrSerValSerTyrGlyLeuMetCysProAlaAspGluThrArgThrIleIleSerLeuAspThrSerGlnMetAsnArgIleLeuTrpValAspGluAsnAsnLeuThrAlaHisValGluAlaGlyIleThrGlyGlnGluLeuGluArgGlnLeuLysGluSerGlyTyrCysThrGlyHisGluProAspSerLeuGluPheSerThrValGlyGlyTrpValSerThrArgAlaSerGlyMetLysLysAsnIleTyrGlyAsnIleGluAspLeuValValHisIleLysMetValThrProArgGlyIleIleGluLysSerCysGlnGlyProArgMetSerThrGlyProAspIleHisHisPheIleMetGlySerGluGlyThrLeuGlyValIleThrGluAlaThrIleLysIleArgProValProGluTyrGlnLysTyrGlySerValAlaPheProAsnPheGluGlnGlyValAlaCysLeuArgGluIleAlaLysGlnArgCysAlaProAlaSerIleArgLeuMetAspAsnLysGlnPheGlnPheGlyHisAlaLeuLysProGlnValSerSerIlePheThrSerPheLeuAspGlyLeuLysLysPheTyrIleThrLysPheLysGlyPheAspProAsnGlnLeuSerValAlaThrLeuLeuPheGluGlyAspArgGluLysValLeuGlnHisGluLysGlnValTyrAspIleAlaAlaLysPheGlyGlyLeuAlaAlaGlyGluAspAsnGlyGlnArgGlyTyrLeuLeuThrTyrValIleAlaTyrIleArgAspLeuAlaLeuGluTyrTyrValLeuGlyGluSerPheGluThrSerAlaProTrpAspArgValValAspLeuCysArgAsnValLysGluArgIleThrArgGluCysLysGluLysGlyValGlnPheAlaProPheSerThrCysArgValThrGlnThrTyrAspAlaGlyAlaCysIleTyrPheTyrPheAlaPheAsnTyrArgGlyIleSerAspProLeuThrValPheGluGlnThrGluAlaAlaAlaArgGluGluIleLeuAlaAsnGlyGlySerLeuSerHisHisHisGlyValGlyLysLeuArgLysGlnTrpLeuLysGluSerIleSerAspValGlyPheGlyMetLeuLysSerValLysGluTyrValAspProAsnAsnIlePheGlyAsnArgAsnLeuLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666124",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264167.11:c.595G>T"
          },
          "RefSeq": {
            "hgvs": "NM_003659.4:c.595G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264167.4:p.Glu199Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003650.1:p.Glu199Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}