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  "@id": "http://reg.genome.network/allele/CA341321102",
  "communityStandardTitle": [
    "NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)"
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  "externalRecords": {
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2081991[alleleid]",
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        "preferredName": "NM_000642.3(AGL):c.2458C>T (p.Gln820Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2029199",
        "RCV": [
          "RCV002876521"
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        "variationId": 2029199
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.100349919C>T?assembly=hg19",
        "id": "chr1:g.100349919C>T"
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    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.99884363C>T?assembly=hg38",
        "id": "chr1:g.99884363C>T"
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    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2524674636",
        "rs": 2524674636
      }
    ]
  },
  "genomicAlleles": [
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      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "C",
          "start": 99884362
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      ],
      "hgvs": [
        "NC_000001.11:g.99884363C>T",
        "CM000663.2:g.99884363C>T"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 100349919,
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          "start": 100349918
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      "hgvs": [
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        "CM000663.1:g.100349919C>T"
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 100122507,
          "referenceAllele": "C",
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      ],
      "hgvs": [
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
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      ],
      "hgvs": [
        "NG_012865.1:g.39280C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS002592"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
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      "referenceSequence": "http://reg.genome.network/refseq/RS749563",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000361915.8:c.2458C>T"
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        "protein": {
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            "hgvs": "ENSP00000355106.3:p.Gln820Ter"
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            "hgvs": "NP_000633.2:p.Gln820Ter"
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    {
      "coordinates": [
        {
          "allele": "T",
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      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000637337.1:n.2669C>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS763793"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2936,
          "referenceAllele": "C",
          "start": 2935
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      ],
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      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000294724.8:c.2458C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000294724.4:p.Gln820Ter",
        "hgvsWellDefined": "ENSP00000294724.4:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
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      "referenceSequence": "http://reg.genome.network/refseq/RS253994"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2669,
          "referenceAllele": "C",
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        }
      ],
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      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000361302.7:c.2410C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000354971.3:p.Gln804Ter",
        "hgvsWellDefined": "ENSP00000354971.3:p.Gln804_Leu1516delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265423"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2669,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
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      "hgvs": [
        "ENST00000361522.4:c.2407C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000354635.4:p.Gln803Ter",
        "hgvsWellDefined": "ENSP00000354635.4:p.Gln803_Leu1515delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265519"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2858,
          "referenceAllele": "C",
          "start": 2857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355106.3:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS265709"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2410,
          "referenceAllele": "C",
          "start": 2409
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370161.6:c.2410C>T"
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      "proteinEffect": {
        "hgvs": "ENSP00000359180.2:p.Gln804Ter",
        "hgvsWellDefined": "ENSP00000359180.2:p.Gln804_Leu1516delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267908"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2656,
          "referenceAllele": "C",
          "start": 2655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370163.7:c.2458C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359182.3:p.Gln820Ter",
        "hgvsWellDefined": "ENSP00000359182.3:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267910"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "C",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "ENST00000370165.7:c.2458C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359184.3:p.Gln820Ter",
        "hgvsWellDefined": "ENSP00000359184.3:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267911"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825006812",
      "coordinates": [
        {
          "allele": "T",
          "end": 2936,
          "referenceAllele": "C",
          "start": 2935
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000028.2:c.2458C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000019.2:p.Gln820Ter",
        "hgvsWellDefined": "NP_000019.2:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006093"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825217811",
      "coordinates": [
        {
          "allele": "T",
          "end": 2858,
          "referenceAllele": "C",
          "start": 2857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.2:c.2458C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Gln820Ter",
        "hgvsWellDefined": "NP_000633.2:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006693"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825223269",
      "coordinates": [
        {
          "allele": "T",
          "end": 2656,
          "referenceAllele": "C",
          "start": 2655
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000643.2:c.2458C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000634.2:p.Gln820Ter",
        "hgvsWellDefined": "NP_000634.2:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006694"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2580122143",
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "C",
          "start": 2595
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000644.2:c.2458C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000635.2:p.Gln820Ter",
        "hgvsWellDefined": "NP_000635.2:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006695"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2669,
          "referenceAllele": "C",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000645.2:c.2407C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000636.2:p.Gln803Ter",
        "hgvsWellDefined": "NP_000636.2:p.Gln803_Leu1515delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006696"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825233108",
      "coordinates": [
        {
          "allele": "T",
          "end": 2669,
          "referenceAllele": "C",
          "start": 2668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000646.2:c.2410C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000637.2:p.Gln804Ter",
        "hgvsWellDefined": "NP_000637.2:p.Gln804_Leu1516delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006697"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "C",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.1:c.2458C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Gln820Ter",
        "hgvsWellDefined": "XP_005270614.1:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS066566"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2551,
          "referenceAllele": "C",
          "start": 2550
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_005270557.2:c.2458C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005270614.1:p.Gln820Ter",
        "hgvsWellDefined": "XP_005270614.1:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS536956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 786,
          "referenceAllele": "C",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "XM_017000501.2:c.718C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016855990.1:p.Gln240Ter",
        "hgvsWellDefined": "XP_016855990.1:p.Gln240_Leu952delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS556866"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825217811",
      "coordinates": [
        {
          "allele": "T",
          "end": 2581,
          "referenceAllele": "C",
          "start": 2580
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000321",
      "geneNCBI_id": 178,
      "geneSymbol": "AGL",
      "hgvs": [
        "NM_000642.3:c.2458C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000633.2:p.Gln820Ter",
        "hgvsWellDefined": "NP_000633.2:p.Gln820_Leu1532delinsAlaGlyValAlaThrLysGlyProAsnGluTyrIleGlnGluIleGluPheGluAsnLeuSerProGlySerValIleIlePheArgValSerLeuAspProHisAlaGlnValAlaValGlyIleLeuArgAsnHisLeuThrGlnPheSerProHisPheLysSerGlySerLeuAlaValAspAsnAlaAspProIleLeuLysIleProPheAlaSerLeuAlaSerArgLeuThrLeuAlaGluLeuAsnGlnIleLeuTyrArgCysGluSerGluGluLysGluAspGlyGlyGlyCysTyrAspIleProAsnTrpSerAlaLeuLysTyrAlaGlyLeuGlnGlyLeuMetSerValLeuAlaGluIleArgProLysAsnAspLeuGlyHisProPheCysAsnAsnLeuArgSerGlyAspTrpMetIleAspTyrValSerAsnArgLeuIleSerArgSerGlyThrIleAlaGluValGlyLysTrpLeuGlnAlaMetPhePheTyrLeuLysGlnIleProArgTyrLeuIleProCysTyrPheAspAlaIleLeuIleGlyAlaTyrThrThrLeuLeuAspThrAlaTrpLysGlnMetSerSerPheValGlnAsnGlySerThrPheValLysHisLeuSerLeuGlySerValGlnLeuCysGlyValGlyLysPheProSerLeuProIleLeuSerProAlaLeuMetAspValProTyrArgLeuAsnGluIleThrLysGluLysGluGlnCysCysValSerLeuAlaAlaGlyLeuProHisPheSerSerGlyIlePheArgCysTrpGlyArgAspThrPheIleAlaLeuArgGlyIleLeuLeuIleThrGlyArgTyrValGluAlaArgAsnIleIleLeuAlaPheAlaGlyThrLeuArgHisGlyLeuIleProAsnLeuLeuGlyGluGlyIleTyrAlaArgTyrAsnCysArgAspAlaValTrpTrpTrpLeuGlnCysIleGlnAspTyrCysLysMetValProAsnGlyLeuAspIleLeuLysCysProValSerArgMetTyrProThrAspAspSerAlaProLeuProAlaGlyThrLeuAspGlnProLeuPheGluValIleGlnGluAlaMetGlnLysHisMetGlnGlyIleGlnPheArgGluArgAsnAlaGlyProGlnIleAspArgAsnMetLysAspGluGlyPheAsnIleThrAlaGlyValAspGluGluThrGlyPheValTyrGlyGlyAsnArgPheAsnCysGlyThrTrpMetAspLysMetGlyGluSerAspArgAlaArgAsnArgGlyIleProAlaThrProArgAspGlySerAlaValGluIleValGlyLeuSerLysSerAlaValArgTrpLeuLeuGluLeuSerLysLysAsnIlePheProTyrHisGluValThrValLysArgHisGlyLysAlaIleLysValSerTyrAspGluTrpAsnArgLysIleGlnAspAsnPheGluLysLeuPheHisValSerGluAspProSerAspLeuAsnGluLysHisProAsnLeuValHisLysArgGlyIleTyrLysAspSerTyrGlyAlaSerSerProTrpCysAspTyrGlnLeuArgProAsnPheThrIleAlaMetValValAlaProGluLeuPheThrThrGluLysAlaTrpLysAlaLeuGluIleAlaGluLysLysLeuLeuGlyProLeuGlyMetLysThrLeuAspProAspAspMetValTyrCysGlyIleTyrAspAsnAlaLeuAspAsnAspAsnTyrAsnLeuAlaLysGlyPheAsnTyrHisGlnGlyProGluTrpLeuTrpProIleGlyTyrPheLeuArgAlaLysLeuTyrPheSerArgLeuMetGlyProGluThrThrAlaLysThrIleValLeuValLysAsnValLeuSerArgHisTyrValHisLeuGluArgSerProTrpLysGlyLeuProGluLeuThrAsnGluAsnAlaGlnTyrCysProPheSerCysGluThrGlnAlaTrpSerIleAlaThrIleLeuGluThrLeuTyrAspLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662520",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000361915.8:c.2458C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000642.3:c.2458C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000355106.3:p.Gln820Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000633.2:p.Gln820Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}