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  "@id": "http://reg.genome.network/allele/CA390850245",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3138984[alleleid]",
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        "preferredName": "NM_000295.5(SERPINA1):c.343C>T (p.Gln115Ter)"
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    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2968675",
        "RCV": [
          "RCV003829321"
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        "variationId": 2968675
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.94849232G>A?assembly=hg19",
        "id": "chr14:g.94849232G>A"
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        "@id": "http://myvariant.info/v1/variant/chr14:g.94382895G>A?assembly=hg38",
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1897040319",
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      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
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      "referenceSequence": "http://reg.genome.network/refseq/RS279575"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
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    {
      "@id": "http://reg.genome.network/allele/PA2825656680",
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        {
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      ],
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      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121176.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656981",
      "coordinates": [
        {
          "allele": "T",
          "end": 894,
          "referenceAllele": "C",
          "start": 893
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121177.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657282",
      "coordinates": [
        {
          "allele": "T",
          "end": 687,
          "referenceAllele": "C",
          "start": 686
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121178.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741834518",
      "coordinates": [
        {
          "allele": "T",
          "end": 684,
          "referenceAllele": "C",
          "start": 683
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121179.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 784,
          "referenceAllele": "C",
          "start": 783
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "XM_017021370.1:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Gln115Ter",
        "hgvsWellDefined": "XP_016876859.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825108511",
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "C",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Gln115Ter",
        "hgvsWellDefined": "NP_000286.3:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.343C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.343C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Gln115Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Gln115Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825244821",
      "coordinates": [
        {
          "allele": "T",
          "end": 526,
          "referenceAllele": "C",
          "start": 525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001002235.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245458",
      "coordinates": [
        {
          "allele": "T",
          "end": 840,
          "referenceAllele": "C",
          "start": 839
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001002236.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655579",
      "coordinates": [
        {
          "allele": "T",
          "end": 563,
          "referenceAllele": "C",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121172.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655848",
      "coordinates": [
        {
          "allele": "T",
          "end": 859,
          "referenceAllele": "C",
          "start": 858
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121173.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656078",
      "coordinates": [
        {
          "allele": "T",
          "end": 667,
          "referenceAllele": "C",
          "start": 666
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121174.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656379",
      "coordinates": [
        {
          "allele": "T",
          "end": 822,
          "referenceAllele": "C",
          "start": 821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121175.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656680",
      "coordinates": [
        {
          "allele": "T",
          "end": 819,
          "referenceAllele": "C",
          "start": 818
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121176.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656981",
      "coordinates": [
        {
          "allele": "T",
          "end": 837,
          "referenceAllele": "C",
          "start": 836
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121177.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657282",
      "coordinates": [
        {
          "allele": "T",
          "end": 630,
          "referenceAllele": "C",
          "start": 629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121178.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741834518",
      "coordinates": [
        {
          "allele": "T",
          "end": 627,
          "referenceAllele": "C",
          "start": 626
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.343C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Gln115Ter",
        "hgvsWellDefined": "NP_001121179.1:p.Gln115_Lys418delinsIleHisGluGlyPheGlnGluLeuLeuArgThrLeuAsnGlnProAspSerGlnLeuGlnLeuThrThrGlyAsnGlyLeuPheLeuSerGluGlyLeuLysLeuValAspLysPheLeuGluAspValLysLysLeuTyrHisSerGluAlaPheThrValAsnPheGlyAspThrGluGluAlaLysLysGlnIleAsnAspTyrValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}