{
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  "@id": "http://reg.genome.network/allele/CA274042",
  "communityStandardTitle": [
    "NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=433536",
        "active": true,
        "id": "COSM433536"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=186927[alleleid]",
        "alleleId": 186927,
        "preferredName": "NM_000295.5(SERPINA1):c.552C>G (p.Tyr184Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/188854",
        "RCV": [
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        ],
        "variationId": 188854
      }
    ],
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        "@id": "http://exac.broadinstitute.org/variant/14-94849023-G-C",
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      }
    ],
    "MyVariantInfo_hg19": [
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        "@id": "http://myvariant.info/v1/variant/chr14:g.94849023G>C?assembly=hg19",
        "id": "chr14:g.94849023G>C"
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        "@id": "http://myvariant.info/v1/variant/chr14:g.94382686G>C?assembly=hg38",
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS263559"
    },
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        "hgvsWellDefined": "ENSP00000376802.4:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275446"
    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275447"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 586,
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      ],
      "gene": "http://reg.genome.network/gene/GN008941",
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      "geneSymbol": "SERPINA1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000386094.1:p.Tyr184_Pro359delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysValArgSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS279575"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 863,
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      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000385960.4:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS280169"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 932
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      "geneSymbol": "SERPINA1",
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000408474.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS294442"
    },
    {
      "coordinates": [
        {
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          "start": 736
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296122"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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        "hgvsWellDefined": "ENSP00000416066.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS299955"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS300207"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 561,
          "referenceAllele": "C",
          "start": 560
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      ],
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      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "ENST00000489769.1:c.552C>G"
      ],
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        "hgvsWellDefined": "ENSP00000451525.1:p.Tyr184_Arg306delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS327757"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 423,
          "referenceAllele": "C",
          "start": 422
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      ],
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      "geneSymbol": "SERPINA1",
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000450561.1:p.Tyr98Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS370859"
    },
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        {
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          "end": 813,
          "referenceAllele": "C",
          "start": 812
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      ],
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      ],
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        "hgvsWellDefined": "NP_000286.3:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006356"
    },
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        {
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          "end": 792,
          "referenceAllele": "C",
          "start": 791
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      ],
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007233"
    },
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      "@id": "http://reg.genome.network/allele/PA2825245579",
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        {
          "allele": "G",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
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      ],
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS007234"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655624",
      "coordinates": [
        {
          "allele": "G",
          "end": 829,
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          "start": 828
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011682"
    },
    {
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        {
          "allele": "G",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121173.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011683"
    },
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      "@id": "http://reg.genome.network/allele/PA2825656123",
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        {
          "allele": "G",
          "end": 933,
          "referenceAllele": "C",
          "start": 932
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      ],
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      "hgvs": [
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011684"
    },
    {
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      "coordinates": [
        {
          "allele": "G",
          "end": 1088,
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      ],
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011685"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656726",
      "coordinates": [
        {
          "allele": "G",
          "end": 1085,
          "referenceAllele": "C",
          "start": 1084
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      ],
      "gene": "http://reg.genome.network/gene/GN008941",
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      "hgvs": [
        "NM_001127704.1:c.552C>G"
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011686"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1103,
          "referenceAllele": "C",
          "start": 1102
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.1:c.552C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121177.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011687"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657327",
      "coordinates": [
        {
          "allele": "G",
          "end": 896,
          "referenceAllele": "C",
          "start": 895
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121178.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011688"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915968310",
      "coordinates": [
        {
          "allele": "G",
          "end": 893,
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
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      "hgvs": [
        "NM_001127707.1:c.552C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "NP_001121179.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011689"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 993,
          "referenceAllele": "C",
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      ],
      "gene": "http://reg.genome.network/gene/GN008941",
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      "hgvs": [
        "XM_017021370.1:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876859.1:p.Tyr184Ter",
        "hgvsWellDefined": "XP_016876859.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572590"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274043",
      "coordinates": [
        {
          "allele": "G",
          "end": 599,
          "referenceAllele": "C",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_000295.5:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000286.3:p.Tyr184Ter",
        "hgvsWellDefined": "NP_000286.3:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674776",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000393087.9:c.552C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000295.5:c.552C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000376802.4:p.Tyr184Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000286.3:p.Tyr184Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825244916",
      "coordinates": [
        {
          "allele": "G",
          "end": 735,
          "referenceAllele": "C",
          "start": 734
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002235.3:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002235.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001002235.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675068"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825245579",
      "coordinates": [
        {
          "allele": "G",
          "end": 1049,
          "referenceAllele": "C",
          "start": 1048
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001002236.3:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001002236.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001002236.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS675069"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825655624",
      "coordinates": [
        {
          "allele": "G",
          "end": 772,
          "referenceAllele": "C",
          "start": 771
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127700.2:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121172.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001121172.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676934"
    },
    {
      "@id": "http://reg.genome.network/allele/PA274044",
      "coordinates": [
        {
          "allele": "G",
          "end": 1068,
          "referenceAllele": "C",
          "start": 1067
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127701.2:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121173.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001121173.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676935"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656123",
      "coordinates": [
        {
          "allele": "G",
          "end": 876,
          "referenceAllele": "C",
          "start": 875
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127702.2:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121174.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001121174.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676936"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656424",
      "coordinates": [
        {
          "allele": "G",
          "end": 1031,
          "referenceAllele": "C",
          "start": 1030
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127703.2:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121175.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001121175.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676937"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825656726",
      "coordinates": [
        {
          "allele": "G",
          "end": 1028,
          "referenceAllele": "C",
          "start": 1027
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127704.2:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121176.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001121176.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676938"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657026",
      "coordinates": [
        {
          "allele": "G",
          "end": 1046,
          "referenceAllele": "C",
          "start": 1045
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127705.2:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121177.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001121177.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676939"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825657327",
      "coordinates": [
        {
          "allele": "G",
          "end": 839,
          "referenceAllele": "C",
          "start": 838
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127706.2:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121178.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001121178.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676940"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915968310",
      "coordinates": [
        {
          "allele": "G",
          "end": 836,
          "referenceAllele": "C",
          "start": 835
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008941",
      "geneNCBI_id": 5265,
      "geneSymbol": "SERPINA1",
      "hgvs": [
        "NM_001127707.2:c.552C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001121179.1:p.Tyr184Ter",
        "hgvsWellDefined": "NP_001121179.1:p.Tyr184_Lys418delinsValGluLysGlyThrGlnGlyLysIleValAspLeuValLysGluLeuAspArgAspThrValPheAlaLeuValAsnTyrIlePhePheLysGlyLysTrpGluArgProPheGluValLysAspThrGluGluGluAspPheHisValAspGlnValThrThrValLysValProMetMetLysArgLeuGlyMetPheAsnIleGlnHisCysLysLysLeuSerSerTrpValLeuLeuMetLysTyrLeuGlyAsnAlaThrAlaIlePhePheLeuProAspGluGlyLysLeuGlnHisLeuGluAsnGluLeuThrHisAspIleIleThrLysPheLeuGluAsnGluAspArgArgSerAlaSerLeuHisLeuProLysLeuSerIleThrGlyThrTyrAspLeuLysSerValLeuGlyGlnLeuGlyIleThrLysValPheSerAsnGlyAlaAspLeuSerGlyValThrGluGluAlaProLeuLysLeuSerLysAlaValHisLysAlaValLeuThrIleAspGluLysGlyThrGluAlaAlaGlyAlaMetPheLeuGluAlaIleProMetSerIleProProGluValLysPheAsnLysProPheValPheLeuMetIleGluGlnAsnThrLysSerProLeuPheMetGlyLysValValAsnProThrGlnLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676941"
    }
  ],
  "type": "nucleotide"
}