{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA401360674",
  "communityStandardTitle": [
    "NM_000152.5(GAA):c.304C>T (p.Gln102Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1451090[alleleid]",
        "alleleId": 1451090,
        "preferredName": "NM_000152.5(GAA):c.304C>T (p.Gln102Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1453562",
        "RCV": [
          "RCV001994841"
        ],
        "variationId": 1453562
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.78078689C>T?assembly=hg19",
        "id": "chr17:g.78078689C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr17:g.80104890C>T?assembly=hg38",
        "id": "chr17:g.80104890C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1432841878",
        "rs": 1432841878
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-78078689-C-T?dataset=gnomad_r2_1",
        "id": "17-78078689-C-T",
        "variant": "17:78078689 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 80104890,
          "referenceAllele": "C",
          "start": 80104889
        }
      ],
      "hgvs": [
        "NC_000017.11:g.80104890C>T",
        "CM000679.2:g.80104890C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 78078689,
          "referenceAllele": "C",
          "start": 78078688
        }
      ],
      "hgvs": [
        "NC_000017.10:g.78078689C>T",
        "CM000679.1:g.78078689C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "T",
          "end": 75693284,
          "referenceAllele": "C",
          "start": 75693283
        }
      ],
      "hgvs": [
        "NC_000017.9:g.75693284C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 8335,
          "referenceAllele": "C",
          "start": 8334
        }
      ],
      "hgvs": [
        "NG_009822.1:g.8335C>T",
        "LRG_673:g.8335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001659"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 429,
          "referenceAllele": "C",
          "start": 428
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.6:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.2:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000460543.2:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914319"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 459,
          "referenceAllele": "C",
          "start": 458
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000572080.2:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000459972.2:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000459972.2:p.Gln102_Ala630delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914321"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 501,
          "referenceAllele": "C",
          "start": 500
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.6:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.2:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000458306.2:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914323"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.8:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000305692.3:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744924",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.304C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.304C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gln102Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gln102Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000302262.7:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000305692.3:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000305692.3:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS255143"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 448,
          "referenceAllele": "C",
          "start": 447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000390015.7:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374665.3:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000374665.3:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274344"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000570803.5:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000460543.1:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000460543.1:p.Gln102_Pro285del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS382243"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 490,
          "referenceAllele": "C",
          "start": 489
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "ENST00000577106.5:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000458306.1:p.Gln102Ter",
        "hgvsWellDefined": "ENSP00000458306.1:p.Gln102Ter"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS384722"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064970",
      "coordinates": [
        {
          "allele": "T",
          "end": 671,
          "referenceAllele": "C",
          "start": 670
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.3:c.304C>T",
        "LRG_673t1:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln102Ter",
        "hgvsWellDefined": "NP_000143.2:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006214"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459841",
      "coordinates": [
        {
          "allele": "T",
          "end": 486,
          "referenceAllele": "C",
          "start": 485
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.1:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010088"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573176480",
      "coordinates": [
        {
          "allele": "T",
          "end": 406,
          "referenceAllele": "C",
          "start": 405
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.1:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010089"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 517,
          "referenceAllele": "C",
          "start": 516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.1:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gln102Ter",
        "hgvsWellDefined": "XP_005257250.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061613"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 546,
          "referenceAllele": "C",
          "start": 545
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.3:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gln102Ter",
        "hgvsWellDefined": "XP_005257251.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS061614"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064970",
      "coordinates": [
        {
          "allele": "T",
          "end": 701,
          "referenceAllele": "C",
          "start": 700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.4:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln102Ter",
        "hgvsWellDefined": "NP_000143.2:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510756"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459841",
      "coordinates": [
        {
          "allele": "T",
          "end": 516,
          "referenceAllele": "C",
          "start": 515
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.2:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511218"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573176480",
      "coordinates": [
        {
          "allele": "T",
          "end": 436,
          "referenceAllele": "C",
          "start": 435
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.2:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511219"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 502,
          "referenceAllele": "C",
          "start": 501
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257193.2:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257250.1:p.Gln102Ter",
        "hgvsWellDefined": "XP_005257250.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534619"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "XM_005257194.4:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005257251.1:p.Gln102Ter",
        "hgvsWellDefined": "XP_005257251.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS534620"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825064970",
      "coordinates": [
        {
          "allele": "T",
          "end": 646,
          "referenceAllele": "C",
          "start": 645
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_000152.5:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000143.2:p.Gln102Ter",
        "hgvsWellDefined": "NP_000143.2:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662328",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000302262.8:c.304C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000152.5:c.304C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000305692.3:p.Gln102Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000143.2:p.Gln102Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825459841",
      "coordinates": [
        {
          "allele": "T",
          "end": 461,
          "referenceAllele": "C",
          "start": 460
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079803.3:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073271.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_001073271.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573176480",
      "coordinates": [
        {
          "allele": "T",
          "end": 381,
          "referenceAllele": "C",
          "start": 380
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004065",
      "geneNCBI_id": 2548,
      "geneSymbol": "GAA",
      "hgvs": [
        "NM_001079804.3:c.304C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001073272.1:p.Gln102Ter",
        "hgvsWellDefined": "NP_001073272.1:p.Gln102_Cys952delinsCysGluAlaArgGlyCysCysTyrIleProAlaLysGlnGlyLeuGlnGlyAlaGlnMetGlyGlnProTrpCysPhePheProProSerTyrProSerTyrLysLeuGluAsnLeuSerSerSerGluMetGlyTyrThrAlaThrLeuThrArgThrThrProThrPhePheProLysAspIleLeuThrLeuArgLeuAspValMetMetGluThrGluAsnArgLeuHisPheThrIleLysAspProAlaAsnArgArgTyrGluValProLeuGluThrProHisValHisSerArgAlaProSerProLeuTyrSerValGluPheSerGluGluProPheGlyValIleValArgArgGlnLeuAspGlyArgValLeuLeuAsnThrThrValAlaProLeuPhePheAlaAspGlnPheLeuGlnLeuSerThrSerLeuProSerGlnTyrIleThrGlyLeuAlaGluHisLeuSerProLeuMetLeuSerThrSerTrpThrArgIleThrLeuTrpAsnArgAspLeuAlaProThrProGlyAlaAsnLeuTyrGlySerHisProPheTyrLeuAlaLeuGluAspGlyGlySerAlaHisGlyValPheLeuLeuAsnSerAsnAlaMetAspValValLeuGlnProSerProAlaLeuSerTrpArgSerThrGlyGlyIleLeuAspValTyrIlePheLeuGlyProGluProLysSerValValGlnGlnTyrLeuAspValValGlyTyrProPheMetProProTyrTrpGlyLeuGlyPheHisLeuCysArgTrpGlyTyrSerSerThrAlaIleThrArgGlnValValGluAsnMetThrArgAlaHisPheProLeuAspValGlnTrpAsnAspLeuAspTyrMetAspSerArgArgAspPheThrPheAsnLysAspGlyPheArgAspPheProAlaMetValGlnGluLeuHisGlnGlyGlyArgArgTyrMetMetIleValAspProAlaIleSerSerSerGlyProAlaGlySerTyrArgProTyrAspGluGlyLeuArgArgGlyValPheIleThrAsnGluThrGlyGlnProLeuIleGlyLysValTrpProGlySerThrAlaPheProAspPheThrAsnProThrAlaLeuAlaTrpTrpGluAspMetValAlaGluPheHisAspGlnValProPheAspGlyMetTrpIleAspMetAsnGluProSerAsnPheIleArgGlySerGluAspGlyCysProAsnAsnGluLeuGluAsnProProTyrValProGlyValValGlyGlyThrLeuGlnAlaAlaThrIleCysAlaSerSerHisGlnPheLeuSerThrHisTyrAsnLeuHisAsnLeuTyrGlyLeuThrGluAlaIleAlaSerHisArgAlaLeuValLysAlaArgGlyThrArgProPheValIleSerArgSerThrPheAlaGlyHisGlyArgTyrAlaGlyHisTrpThrGlyAspValTrpSerSerTrpGluGlnLeuAlaSerSerValProGluIleLeuGlnPheAsnLeuLeuGlyValProLeuValGlyAlaAspValCysGlyPheLeuGlyAsnThrSerGluGluLeuCysValArgTrpThrGlnLeuGlyAlaPheTyrProPheMetArgAsnHisAsnSerLeuLeuSerLeuProGlnGluProTyrSerPheSerGluProAlaGlnGlnAlaMetArgLysAlaLeuThrLeuArgTyrAlaLeuLeuProHisLeuTyrThrLeuPheHisGlnAlaHisValAlaGlyGluThrValAlaArgProLeuPheLeuGluPheProLysAspSerSerThrTrpThrValAspHisGlnLeuLeuTrpGlyGluAlaLeuLeuIleThrProValLeuGlnAlaGlyLysAlaGluValThrGlyTyrPheProLeuGlyThrTrpTyrAspLeuGlnThrValProValGluAlaLeuGlySerLeuProProProProAlaAlaProArgGluProAlaIleHisSerGluGlyGlnTrpValThrLeuProAlaProLeuAspThrIleAsnValHisLeuArgAlaGlyTyrIleIleProLeuGlnGlyProGlyLeuThrThrThrGluSerArgGlnGlnProMetAlaLeuAlaValAlaLeuThrLysGlyGlyGluAlaArgGlyGluLeuPheTrpAspAspGlyGluSerLeuGluValLeuGluArgGlyAlaTyrThrGlnValIlePheLeuAlaArgAsnAsnThrIleValAsnGluLeuValArgValThrSerGluGlyAlaGlyLeuGlnLeuGlnLysValThrValLeuGlyValAlaThrAlaProGlnGlnValLeuSerAsnGlyValProValSerAsnPheThrTyrSerProAspThrLysValLeuAspIleCysValSerLeuLeuMetGlyGluGlnPheLeuValSerTrpCysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676220"
    }
  ],
  "type": "nucleotide"
}