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  "communityStandardTitle": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS271088"
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      "referenceSequence": "http://reg.genome.network/refseq/RS271089"
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      "referenceSequence": "http://reg.genome.network/refseq/RS006343"
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      "referenceSequence": "http://reg.genome.network/refseq/RS015800"
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    {
      "coordinates": [
        {
          "allele": "T",
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS572048"
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    {
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        {
          "allele": "T",
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      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_000282.4:c.862A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000273.2:p.Arg288Ter",
        "hgvsWellDefined": "NP_000273.2:p.Arg288_Glu728delinsGluCysSerIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662383",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000376285.6:c.862A>T"
          },
          "RefSeq": {
            "hgvs": "NM_000282.4:c.862A>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000365462.1:p.Arg288Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000273.2:p.Arg288Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827663287",
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352605.2:c.862A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339534.1:p.Arg288Ter",
        "hgvsWellDefined": "NP_001339534.1:p.Arg288_Glu710delinsGluCysSerIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689319"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827663950",
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352606.2:c.862A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339535.1:p.Arg288Ter",
        "hgvsWellDefined": "NP_001339535.1:p.Arg288_Glu680delinsGluCysSerIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689320"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827664559",
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "A",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352607.2:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339536.1:p.Arg262Ter",
        "hgvsWellDefined": "NP_001339536.1:p.Arg262_Glu655delinsGluCysSerIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689321"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827665158",
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "A",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352608.2:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339537.1:p.Arg262Ter",
        "hgvsWellDefined": "NP_001339537.1:p.Arg262_Glu654delinsGluCysSerIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689322"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916035548",
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352609.2:c.862A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339538.1:p.Arg288Ter",
        "hgvsWellDefined": "NP_001339538.1:p.Arg288_Asp640delinsGluCysSerIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValProTrpArgLysLeuLeuAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "A",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352610.2:c.-84A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339539.1:n.-84A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689324"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "A",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352611.2:c.-84A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339540.1:n.-84A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689325"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 811,
          "referenceAllele": "A",
          "start": 810
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001352612.2:c.-84A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001339541.1:n.-84A>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689326"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148027.2:n.890A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704674"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148028.2:n.890A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704675"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "A",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148029.2:n.812A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704676"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148030.2:n.890A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704677"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NR_148031.2:n.890A>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704678"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825653888",
      "coordinates": [
        {
          "allele": "T",
          "end": 812,
          "referenceAllele": "A",
          "start": 811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001127692.3:c.784A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121164.1:p.Arg262Ter",
        "hgvsWellDefined": "NP_001121164.1:p.Arg262_Glu702delinsGluCysSerIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValTyrLysValAsnIleLeuThrArgLeuAlaAlaGluLeuAsnLysPheMetLeuGluLysValThrGluAspThrSerSerValLeuArgSerProMetProGlyValValValAlaValSerValLysProGlyAspAlaValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS712226"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826131577",
      "coordinates": [
        {
          "allele": "T",
          "end": 890,
          "referenceAllele": "A",
          "start": 889
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008653",
      "geneNCBI_id": 5095,
      "geneSymbol": "PCCA",
      "hgvs": [
        "NM_001178004.2:c.862A>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001171475.1:p.Arg288Ter",
        "hgvsWellDefined": "NP_001171475.1:p.Arg288_Glu681delinsGluCysSerIleGlnArgArgAsnGlnLysValValGluGluAlaProSerIlePheLeuAspAlaGluThrArgArgAlaMetGlyGluGlnAlaValAlaLeuAlaArgAlaValLysTyrSerSerAlaGlyThrValGluPheLeuValAspSerLysLysAsnPheTyrPheLeuGluMetAsnThrArgLeuGlnValGluHisProValThrGluCysIleThrGlyLeuAspLeuValGlnGluMetIleArgValAlaLysGlyTyrProLeuArgHisLysGlnAlaAspIleArgIleAsnGlyTrpAlaValGluCysArgValTyrAlaGluAspProTyrLysSerPheGlyLeuProSerIleGlyArgLeuSerGlnTyrGlnGluProLeuHisLeuProGlyValArgValAspSerGlyIleGlnProGlySerAspIleSerIleTyrTyrAspProMetIleSerLysLeuIleThrTyrGlySerAspArgThrGluAlaLeuLysArgMetAlaAspAlaLeuAspAsnTyrValIleArgGlyValThrHisAsnIleAlaLeuLeuArgGluValIleIleAsnSerArgPheValLysGlyAspIleSerThrLysPheLeuSerAspValTyrProAspGlyPheLysGlyHisMetLeuThrLysSerGluLysAsnGlnLeuLeuAlaIleAlaSerSerLeuPheValAlaPheGlnLeuArgAlaGlnHisPheGlnGluAsnSerArgMetProValIleLysProAspIleAlaAsnTrpGluLeuSerValLysLeuHisAspLysValHisThrValValAlaSerAsnAsnGlySerValPheSerValGluValAspGlySerLysLeuAsnValThrSerThrTrpAsnLeuAlaSerProLeuLeuSerValSerValAspGlyThrGlnArgThrValGlnCysLeuSerArgGluAlaGlyGlyAsnMetSerIleGlnPheLeuGlyThrValValAlaGluGlyGlnGluIleCysValIleGluAlaMetLysMetGlnAsnSerMetThrAlaGlyLysThrGlyThrValLysSerValHisCysGlnAlaGlyAspThrValGlyGluGlyAspLeuLeuValGluLeuGluTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS713545"
    }
  ],
  "type": "nucleotide"
}