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  "communityStandardTitle": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657295",
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN008941",
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      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Gln135Ter",
        "hgvsWellDefined": "NP_001121178.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580135970",
      "coordinates": [
        {
          "allele": "T",
          "end": 744,
          "referenceAllele": "C",
          "start": 743
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.403C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121179.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 844,
          "referenceAllele": "C",
          "start": 843
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Gln135Ter",
        "hgvsWellDefined": "XP_016876859.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108526",
      "coordinates": [
        {
          "allele": "T",
          "end": 450,
          "referenceAllele": "C",
          "start": 449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.403C>T"
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      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Gln135Ter",
        "hgvsWellDefined": "NP_000286.3:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.403C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.403C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Gln135Ter"
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          "RefSeq": {
            "hgvs": "NP_000286.3:p.Gln135Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825244840",
      "coordinates": [
        {
          "allele": "T",
          "end": 586,
          "referenceAllele": "C",
          "start": 585
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Gln135Ter",
        "hgvsWellDefined": "NP_001002235.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245480",
      "coordinates": [
        {
          "allele": "T",
          "end": 900,
          "referenceAllele": "C",
          "start": 899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.403C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001002236.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655592",
      "coordinates": [
        {
          "allele": "T",
          "end": 623,
          "referenceAllele": "C",
          "start": 622
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.403C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121172.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655857",
      "coordinates": [
        {
          "allele": "T",
          "end": 919,
          "referenceAllele": "C",
          "start": 918
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Gln135Ter",
        "hgvsWellDefined": "NP_001121173.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656091",
      "coordinates": [
        {
          "allele": "T",
          "end": 727,
          "referenceAllele": "C",
          "start": 726
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Gln135Ter",
        "hgvsWellDefined": "NP_001121174.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656392",
      "coordinates": [
        {
          "allele": "T",
          "end": 882,
          "referenceAllele": "C",
          "start": 881
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.403C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121175.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656693",
      "coordinates": [
        {
          "allele": "T",
          "end": 879,
          "referenceAllele": "C",
          "start": 878
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121176.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656994",
      "coordinates": [
        {
          "allele": "T",
          "end": 897,
          "referenceAllele": "C",
          "start": 896
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Gln135Ter",
        "hgvsWellDefined": "NP_001121177.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657295",
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "referenceAllele": "C",
          "start": 689
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Gln135Ter",
        "hgvsWellDefined": "NP_001121178.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580135970",
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.403C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Gln135Ter",
        "hgvsWellDefined": "NP_001121179.1:p.Gln135_Lys418delinsLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}