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  "@id": "http://reg.genome.network/allele/CA388694563",
  "communityStandardTitle": [
    "NM_000282.4(PCCA):c.872C>G (p.Ser291Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072653",
        "RCV": [
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        "variationId": 1072653
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      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.100920995C>G?assembly=hg19",
        "id": "chr13:g.100920995C>G"
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    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1595033018",
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      "referenceSequence": "http://reg.genome.network/refseq/RS001207"
    }
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      "referenceSequence": "http://reg.genome.network/refseq/RS763141"
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      "referenceSequence": "http://reg.genome.network/refseq/RS764019"
    },
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      "hgvs": [
        "ENST00000647303.1:c.*720C>G"
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    },
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271086"
    },
    {
      "coordinates": [
        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271088"
    },
    {
      "coordinates": [
        {
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      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271089"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825139067",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006343"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825653899",
      "coordinates": [
        {
          "allele": "G",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011675"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826131587",
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
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        "hgvsWellDefined": "NP_001171475.1:p.Ser291_Glu681delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015800"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
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      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_005254059.2:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_005254116.1:p.Ser291Ter",
        "hgvsWellDefined": "XP_005254116.1:p.Ser291_Asp640delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValProTrpArgLysLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060486"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_011521093.1:c.872C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_011519395.1:p.Ser291_Gln699delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValGluHisGlyAlaGlnGlyLysPheSerIleValSerCysGlnGlnAsnHisProGlyGluSerPheTrpIleAspCysGluLysLeuGlyArgArgCysCysGlyLeuValAlaGlySerAlaGlyGlyLeuGlyLeuLysAlaLeuGlyLeuTyrLysLeuPheTrpIleCysAsnThrPheIleLeuAsnLeuGlnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS088257"
    },
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      "coordinates": [
        {
          "allele": "G",
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          "referenceAllele": "C",
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        }
      ],
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        "XR_931615.1:n.973C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS127719"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS127720"
    },
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      "@id": "http://reg.genome.network/allele/PA2827663297",
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
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        }
      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521032"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827663960",
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        {
          "allele": "G",
          "end": 978,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521033"
    },
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      "@id": "http://reg.genome.network/allele/PA2827664570",
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
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          "start": 899
        }
      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521034"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665168",
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        {
          "allele": "G",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521035"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499251349",
      "coordinates": [
        {
          "allele": "G",
          "end": 978,
          "referenceAllele": "C",
          "start": 977
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001339538.1:p.Ser291_Asp640delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValProTrpArgLysLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521036"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS521037"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "hgvs": [
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      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:n.-74C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS521038"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_001339541.1:n.-74C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521039"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS531000"
    },
    {
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          "allele": "G",
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      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS531001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS531002"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS531003"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
      "gene": "http://reg.genome.network/gene/GN008653",
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      "hgvs": [
        "NR_148031.1:n.978C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS531004"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        }
      ],
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      "geneNCBI_id": 5095,
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      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "XP_016876094.1:p.Ser291_Asn744delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerValSerValIleLysTyrProMetValCysGlySerGlyThrGluMetGlyLeuPheProLysAlaLeuSerMetAlaThrSerValTyrPheCysIleLeuSerCysIleAlaSerValAlaTyrIleLeuValSerThrValTyrGlyGluSerLeuLeuIleGluIleGluThrAlaIleMetLysProAlaIleIleAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572044"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020606.1:c.794C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876095.1:p.Ser265Ter",
        "hgvsWellDefined": "XP_016876095.1:p.Ser265_Asn718delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerValSerValIleLysTyrProMetValCysGlySerGlyThrGluMetGlyLeuPheProLysAlaLeuSerMetAlaThrSerValTyrPheCysIleLeuSerCysIleAlaSerValAlaTyrIleLeuValSerThrValTyrGlyGluSerLeuLeuIleGluIleGluThrAlaIleMetLysProAlaIleIleAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572045"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 789,
          "referenceAllele": "C",
          "start": 788
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020607.1:c.773C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876096.1:p.Ser258Ter",
        "hgvsWellDefined": "XP_016876096.1:p.Ser258_Asn711delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerValSerValIleLysTyrProMetValCysGlySerGlyThrGluMetGlyLeuPheProLysAlaLeuSerMetAlaThrSerValTyrPheCysIleLeuSerCysIleAlaSerValAlaTyrIleLeuValSerThrValTyrGlyGluSerLeuLeuIleGluIleGluThrAlaIleMetLysProAlaIleIleAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572046"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 886,
          "referenceAllele": "C",
          "start": 885
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020609.1:c.773C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876098.1:p.Ser258Ter",
        "hgvsWellDefined": "XP_016876098.1:p.Ser258_Glu695delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572047"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020611.1:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876100.1:p.Ser291Ter",
        "hgvsWellDefined": "XP_016876100.1:p.Ser291_Asp683delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlyAlaArgGlySerGlyLysValGlnHisCysGlnLeuSerThrLysSerProTrpArgLysLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572048"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020612.1:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876101.1:p.Ser291Ter",
        "hgvsWellDefined": "XP_016876101.1:p.Ser291_Asp681delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerValGlnGlyGluTyrLeuAsnGlnThrCysArgArgIleGluGlnIleTyrAlaGlyLysSerAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572049"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
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      "hgvs": [
        "XM_017020613.1:c.872C>G"
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      "proteinEffect": {
        "hgvs": "XP_016876102.1:p.Ser291Ter",
        "hgvsWellDefined": "XP_016876102.1:p.Ser291_Asp669delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnGluValLeuGlnValMetCysArgTyrAsnSerHisAlaValGlyProValLeuSerHisSerCysMetAlaArgProValSerPheSerArgSerArgTrpLysHisGluHisSerValSerTrpTyrSerGlySerArgArgSerArgAsnLeuCysAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572050"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
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      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020615.1:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876104.1:p.Ser291Ter",
        "hgvsWellDefined": "XP_016876104.1:p.Ser291_Pro624delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerAsnIlePheGlyArgSerHisLysLysLeuGlyProMetValAlaCysGluLeuGlySerTrpArgAlaAspSerIleThrMetGluGlySerValArgTrpSerSerValGluIleMetGluProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XM_017020616.1:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876105.1:p.Ser291Ter",
        "hgvsWellDefined": "XP_016876105.1:p.Ser291_Val551delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerSerCysAlaValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572052"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749567.1:n.973C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597329"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749568.1:n.973C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597330"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749569.1:n.973C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597331"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 824,
          "referenceAllele": "C",
          "start": 823
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749574.1:n.824C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597332"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749576.1:n.973C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597333"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 973,
          "referenceAllele": "C",
          "start": 972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "XR_001749577.1:n.973C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS597334"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825139067",
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.4:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:p.Ser291Ter",
        "hgvsWellDefined": "NP_000273.2:p.Ser291_Glu728delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.872C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.872C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:p.Ser291Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:p.Ser291Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827663297",
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.2:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:p.Ser291Ter",
        "hgvsWellDefined": "NP_001339534.1:p.Ser291_Glu710delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827663960",
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.2:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:p.Ser291Ter",
        "hgvsWellDefined": "NP_001339535.1:p.Ser291_Glu680delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664570",
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.2:c.794C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:p.Ser265Ter",
        "hgvsWellDefined": "NP_001339536.1:p.Ser265_Glu655delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665168",
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.2:c.794C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:p.Ser265Ter",
        "hgvsWellDefined": "NP_001339537.1:p.Ser265_Glu654delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2499251349",
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.2:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:p.Ser291Ter",
        "hgvsWellDefined": "NP_001339538.1:p.Ser291_Asp640delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValProTrpArgLysLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689323"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.2:c.-74C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:n.-74C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689324"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.2:c.-74C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:n.-74C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689325"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 821,
          "referenceAllele": "C",
          "start": 820
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.2:c.-74C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:n.-74C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689326"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.2:n.900C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704674"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.2:n.900C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704675"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.2:n.822C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704676"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.2:n.900C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704677"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.2:n.900C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825653899",
      "coordinates": [
        {
          "allele": "G",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.3:c.794C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:p.Ser265Ter",
        "hgvsWellDefined": "NP_001121164.1:p.Ser265_Glu702delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826131587",
      "coordinates": [
        {
          "allele": "G",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.2:c.872C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:p.Ser291Ter",
        "hgvsWellDefined": "NP_001171475.1:p.Ser291_Glu681delinsIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713545"
    }
  ],
  "type": "nucleotide"
}