{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401360341",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.148G>T (p.Glu50Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=938282[alleleid]",
        "alleleId": 938282,
        "preferredName": "NM_000152.5(GAA):c.148G>T (p.Glu50Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/938653",
        "RCV": [
          "RCV001207918"
        ],
        "variationId": 938653
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78078533G>T?assembly=hg19",
        "id": "chr17:g.78078533G>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80104734G>T?assembly=hg38",
        "id": "chr17:g.80104734G>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555598609",
        "rs": 1555598609
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80104734,
          "referenceAllele": "G",
          "start": 80104733
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80104734G>T",
        "CM000679.2:g.80104734G>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78078533,
          "referenceAllele": "G",
          "start": 78078532
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78078533G>T",
        "CM000679.1:g.78078533G>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75693128,
          "referenceAllele": "G",
          "start": 75693127
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75693128G>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8179,
          "referenceAllele": "G",
          "start": 8178
        }
      ],
      "hgvs": [
        "NG_009822.1:g.8179G>T",
        "LRG_673:g.8179G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 273,
          "referenceAllele": "G",
          "start": 272
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Glu50Ter",
        "hgvsWellDefined": "ENSP00000460543.2:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 303,
          "referenceAllele": "G",
          "start": 302
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Glu50Ter",
        "hgvsWellDefined": "ENSP00000459972.2:p.Glu51_Ala630delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 345,
          "referenceAllele": "G",
          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Glu50Ter",
        "hgvsWellDefined": "ENSP00000458306.2:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Glu50Ter",
        "hgvsWellDefined": "ENSP00000305692.3:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.148G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.148G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Glu50Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Glu50Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 367,
          "referenceAllele": "G",
          "start": 366
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Glu50Ter",
        "hgvsWellDefined": "ENSP00000305692.3:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 292,
          "referenceAllele": "G",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Glu50Ter",
        "hgvsWellDefined": "ENSP00000374665.3:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.5:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.1:p.Glu50Ter",
        "hgvsWellDefined": "ENSP00000460543.1:p.Glu50_Pro285del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 334,
          "referenceAllele": "G",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.5:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.1:p.Glu50Ter",
        "hgvsWellDefined": "ENSP00000458306.1:p.Glu50Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064885",
      "coordinates": [
        {
          "allele": "T",
          "end": 515,
          "referenceAllele": "G",
          "start": 514
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.148G>T",
        "LRG_673t1:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Glu50Ter",
        "hgvsWellDefined": "NP_000143.2:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459644",
      "coordinates": [
        {
          "allele": "T",
          "end": 330,
          "referenceAllele": "G",
          "start": 329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Glu50Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685626",
      "coordinates": [
        {
          "allele": "T",
          "end": 250,
          "referenceAllele": "G",
          "start": 249
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Glu50Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 361,
          "referenceAllele": "G",
          "start": 360
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Glu50Ter",
        "hgvsWellDefined": "XP_005257250.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 390,
          "referenceAllele": "G",
          "start": 389
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Glu50Ter",
        "hgvsWellDefined": "XP_005257251.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064885",
      "coordinates": [
        {
          "allele": "T",
          "end": 545,
          "referenceAllele": "G",
          "start": 544
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Glu50Ter",
        "hgvsWellDefined": "NP_000143.2:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459644",
      "coordinates": [
        {
          "allele": "T",
          "end": 360,
          "referenceAllele": "G",
          "start": 359
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Glu50Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685626",
      "coordinates": [
        {
          "allele": "T",
          "end": 280,
          "referenceAllele": "G",
          "start": 279
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Glu50Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 346,
          "referenceAllele": "G",
          "start": 345
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Glu50Ter",
        "hgvsWellDefined": "XP_005257250.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 386,
          "referenceAllele": "G",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Glu50Ter",
        "hgvsWellDefined": "XP_005257251.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064885",
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "G",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Glu50Ter",
        "hgvsWellDefined": "NP_000143.2:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.148G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.148G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Glu50Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Glu50Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459644",
      "coordinates": [
        {
          "allele": "T",
          "end": 305,
          "referenceAllele": "G",
          "start": 304
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Glu50Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139685626",
      "coordinates": [
        {
          "allele": "T",
          "end": 225,
          "referenceAllele": "G",
          "start": 224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.148G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Glu50Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Glu51_Cys952delinsThrHisProAlaHisGlnGlnGlyAlaSerArgProGlyProArgAspAlaGlnAlaHisProGlyArgProArgAlaValProThrGlnCysAspValProProAsnSerArgPheAspCysAlaProAspLysAlaIleThrGlnGluGlnCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}