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        "hgvsWellDefined": "XP_006716721.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071778"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1218,
          "referenceAllele": "C",
          "start": 1217
        }
      ],
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      "geneNCBI_id": 79581,
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_006716722.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071779"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1369,
          "referenceAllele": "C",
          "start": 1368
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      ],
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_006716723.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS071780"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 760,
          "referenceAllele": "C",
          "start": 759
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      ],
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        "hgvsWellDefined": "XP_011515602.1:p.Gln182_Ser357delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS084499"
    },
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      "coordinates": [
        {
          "allele": "T",
          "end": 1407,
          "referenceAllele": "C",
          "start": 1406
        }
      ],
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      "geneNCBI_id": 79581,
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001350047.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523181"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828076724",
      "coordinates": [
        {
          "allele": "T",
          "end": 1254,
          "referenceAllele": "C",
          "start": 1253
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363120.1:c.808C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001350049.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523182"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828077130",
      "coordinates": [
        {
          "allele": "T",
          "end": 1403,
          "referenceAllele": "C",
          "start": 1402
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001350050.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523183"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828077353",
      "coordinates": [
        {
          "allele": "T",
          "end": 594,
          "referenceAllele": "C",
          "start": 593
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      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001350051.1:p.Gln106_Ser281delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523184"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 763,
          "referenceAllele": "C",
          "start": 762
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
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      "geneSymbol": "SLC52A2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011515602.1:p.Gln182_Ser357delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS544496"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 911,
          "referenceAllele": "C",
          "start": 910
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
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        "hgvsWellDefined": "XP_016869310.1:p.Gln106_Ser281delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566971"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
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      ],
      "gene": "http://reg.genome.network/gene/GN030224",
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      "geneSymbol": "SLC52A2",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016869311.1:p.Gln106_Ser281delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566972"
    },
    {
      "@id": "http://reg.genome.network/allele/PA198668",
      "coordinates": [
        {
          "allele": "T",
          "end": 960,
          "referenceAllele": "C",
          "start": 959
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001253815.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240744.1:p.Gln270Ter",
        "hgvsWellDefined": "NP_001240744.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680444"
    },
    {
      "@id": "http://reg.genome.network/allele/PA198669",
      "coordinates": [
        {
          "allele": "T",
          "end": 977,
          "referenceAllele": "C",
          "start": 976
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001253816.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001240745.1:p.Gln270Ter",
        "hgvsWellDefined": "NP_001240745.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680445"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828076318",
      "coordinates": [
        {
          "allele": "T",
          "end": 1371,
          "referenceAllele": "C",
          "start": 1370
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363118.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350047.1:p.Gln270Ter",
        "hgvsWellDefined": "NP_001350047.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690609",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000643944.2:c.808C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001363118.2:c.808C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000496184.2:p.Gln270Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001350047.1:p.Gln270Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828076724",
      "coordinates": [
        {
          "allele": "T",
          "end": 1206,
          "referenceAllele": "C",
          "start": 1205
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363120.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350049.1:p.Gln270Ter",
        "hgvsWellDefined": "NP_001350049.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690610"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828077130",
      "coordinates": [
        {
          "allele": "T",
          "end": 1367,
          "referenceAllele": "C",
          "start": 1366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363121.2:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350050.1:p.Gln270Ter",
        "hgvsWellDefined": "NP_001350050.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690611"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828077353",
      "coordinates": [
        {
          "allele": "T",
          "end": 597,
          "referenceAllele": "C",
          "start": 596
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_001363122.2:c.316C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350051.1:p.Gln106Ter",
        "hgvsWellDefined": "NP_001350051.1:p.Gln106_Ser281delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690612"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645429714",
      "coordinates": [
        {
          "allele": "T",
          "end": 1089,
          "referenceAllele": "C",
          "start": 1088
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NM_024531.5:c.808C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078807.1:p.Gln270Ter",
        "hgvsWellDefined": "NP_078807.1:p.Gln270_Ser445delinsLeuLeuSerAlaArgSerAlaCysLeuLeuGlyLeuLeuAlaAlaThrAsnAlaLeuThrAsnGlyValLeuProAlaValGlnSerPheSerCysLeuProTyrGlyArgLeuAlaTyrHisLeuAlaValValLeuGlySerAlaAlaAsnProLeuAlaCysPheLeuAlaMetGlyValLeuCysArgSerLeuAlaGlyLeuGlyGlyLeuSerLeuLeuGlyValPheCysGlyGlyTyrLeuMetAlaLeuAlaValLeuSerProCysProProLeuValGlyThrSerAlaGlyValValLeuValValLeuSerTrpValLeuCysLeuGlyValPheSerTyrValLysValAlaAlaSerSerLeuLeuHisGlyGlyGlyArgProAlaLeuLeuAlaAlaGlyValAlaIleGlnValGlySerLeuLeuGlyAlaValAlaMetPheProProThrSerIleTyrHisValPheHisSerArgLysAspCysAlaAspProCysAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS698707"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1268,
          "referenceAllele": "C",
          "start": 1267
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030224",
      "geneNCBI_id": 79581,
      "geneSymbol": "SLC52A2",
      "hgvs": [
        "NR_045600.2:n.1268C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702375"
    }
  ],
  "type": "nucleotide"
}