{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA277028",
  "communityStandardTitle": [
    "NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=209224[alleleid]",
        "alleleId": 209224,
        "preferredName": "NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/210399",
        "RCV": [
          "RCV000192830",
          "RCV003488446"
        ],
        "variationId": 210399
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.77264673C>G?assembly=hg19",
        "id": "chrX:g.77264673C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.78009176C>G?assembly=hg38",
        "id": "chrX:g.78009176C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045336",
        "rs": 797045336
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 78009176,
          "referenceAllele": "C",
          "start": 78009175
        }
      ],
      "hgvs": [
        "NC_000023.11:g.78009176C>G",
        "CM000685.2:g.78009176C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77264673,
          "referenceAllele": "C",
          "start": 77264672
        }
      ],
      "hgvs": [
        "NC_000023.10:g.77264673C>G",
        "CM000685.1:g.77264673C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "G",
          "end": 77151329,
          "referenceAllele": "C",
          "start": 77151328
        }
      ],
      "hgvs": [
        "NC_000023.9:g.77151329C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000023"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 103480,
          "referenceAllele": "C",
          "start": 103479
        }
      ],
      "hgvs": [
        "NG_013224.2:g.103480C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002729"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2002,
          "referenceAllele": "C",
          "start": 2001
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000343533.10:c.1812C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343026.6:p.Tyr604Ter",
        "hgvsWellDefined": "ENSP00000343026.6:p.Tyr604_Leu1510delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS824031"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000682742.2:n.1944C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS827731"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1974,
          "referenceAllele": "C",
          "start": 1973
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000685264.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510136.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000510136.1:p.Tyr594_Leu1500delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS829973"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1816,
          "referenceAllele": "C",
          "start": 1815
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000685434.1:n.1816C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830073"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686033.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510693.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000510693.1:p.Tyr594_Leu1435delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830367"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1953,
          "referenceAllele": "C",
          "start": 1952
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686133.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509233.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000509233.1:p.Tyr594_Leu1500delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830415"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2136,
          "referenceAllele": "C",
          "start": 2135
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686416.1:n.2136C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830559"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686480.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508978.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000508978.1:p.Tyr594_Phe766delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuArgTyrLeuSerSerLeuPheProLeuLeuPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830601"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1922,
          "referenceAllele": "C",
          "start": 1921
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686515.1:n.1922C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830609"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686543.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509477.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000509477.1:p.Tyr594_Leu1422delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830623"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1944,
          "referenceAllele": "C",
          "start": 1943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686688.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509416.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000509416.1:p.Tyr594_Thr929delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830699"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2093,
          "referenceAllele": "C",
          "start": 2092
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000686999.1:n.2093C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS830855"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2095,
          "referenceAllele": "C",
          "start": 2094
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000687086.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509566.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000509566.1:p.Tyr594_Leu1500delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS830901"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1883,
          "referenceAllele": "C",
          "start": 1882
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000687628.1:n.1883C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831183"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1934,
          "referenceAllele": "C",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000688746.1:n.1934C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831794"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2116,
          "referenceAllele": "C",
          "start": 2115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689530.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509707.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000509707.1:p.Tyr594_Pro972del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832222"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2091,
          "referenceAllele": "C",
          "start": 2090
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689541.1:n.2091C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832230"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1900,
          "referenceAllele": "C",
          "start": 1899
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689649.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509277.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000509277.1:p.Tyr594_Phe844delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuArgTyrLeuSerSerLeuPheProLeuLeuPhePheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832281"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2023,
          "referenceAllele": "C",
          "start": 2022
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689767.1:c.1875C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509406.1:p.Tyr625Ter",
        "hgvsWellDefined": "ENSP00000509406.1:p.Tyr625_Leu1531delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832351"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 4474,
          "referenceAllele": "C",
          "start": 4473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000689872.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509373.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000509373.1:p.Tyr594_Pro657delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluMetGluThrValPheSerCysGluSerValPheLeuTyrSerCysAsnGlyAlaAspAspIleTyrAspGlyTyrGlyProProLeuCysAsnSerSerProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832417"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1812,
          "referenceAllele": "C",
          "start": 1811
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000692110.1:c.1698C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509366.1:p.Tyr566Ter",
        "hgvsWellDefined": "ENSP00000509366.1:p.Tyr566_Gln696del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833547"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2092,
          "referenceAllele": "C",
          "start": 2091
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000692908.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508627.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000508627.1:p.Tyr594_Leu1422delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833947"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2042,
          "referenceAllele": "C",
          "start": 2041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000693387.1:c.*1711C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000508732.1:n.*1711C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834219"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1898,
          "referenceAllele": "C",
          "start": 1897
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000693398.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510089.1:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000510089.1:p.Tyr594_Thr929delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysValThrTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834228"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000341514.11:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345728.6:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000345728.6:p.Tyr594_Leu1500delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341514.11:c.1782C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000052.7:c.1782C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345728.6:p.Tyr594Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000043.4:p.Tyr594Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 97,
          "endIntronDirection": "+",
          "endIntronOffset": 98341,
          "referenceAllele": "C",
          "start": 97,
          "startIntronDirection": "+",
          "startIntronOffset": 98340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008896",
      "geneNCBI_id": 5230,
      "geneSymbol": "PGK1",
      "hgvs": [
        "ENST00000644362.1:c.-20+98341C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000496140.1:n.-20+98341C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS767780"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1963,
          "referenceAllele": "C",
          "start": 1962
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000645094.1:c.*1696C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000493605.1:n.*1696C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS768168"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1937,
          "referenceAllele": "C",
          "start": 1936
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000341514.10:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345728.6:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000345728.6:p.Tyr594_Leu1500delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261356"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000343533.9:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343026.5:p.Tyr594Ter",
        "hgvsWellDefined": "ENSP00000343026.5:p.Tyr594_Leu1422delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261784"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1910,
          "referenceAllele": "C",
          "start": 1909
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "ENST00000350425.5:c.*955C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000343678.5:n.*955C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262680"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277029",
      "coordinates": [
        {
          "allele": "G",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_000052.6:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000043.4:p.Tyr594Ter",
        "hgvsWellDefined": "NP_000043.4:p.Tyr594_Leu1500delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006117"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916012652",
      "coordinates": [
        {
          "allele": "G",
          "end": 1983,
          "referenceAllele": "C",
          "start": 1982
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.1:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:p.Tyr594Ter",
        "hgvsWellDefined": "NP_001269153.1:p.Tyr594_Leu1422delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021822"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 321,
          "endIntronDirection": "-",
          "endIntronOffset": 22223,
          "referenceAllele": "C",
          "start": 321,
          "startIntronDirection": "-",
          "startIntronOffset": 22224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NR_104109.1:n.322-22224C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS053210"
    },
    {
      "@id": "http://reg.genome.network/allele/PA277029",
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_000052.7:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000043.4:p.Tyr594Ter",
        "hgvsWellDefined": "NP_000043.4:p.Tyr594_Leu1500delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnPhePheGlyGlyTrpTyrPheTyrIleGlnAlaTyrLysAlaLeuLysHisLysThrAlaAsnMetAspValLeuIleValLeuAlaThrThrIleAlaPheAlaTyrSerLeuIleIleLeuLeuValAlaMetTyrGluArgAlaLysValAsnProIleThrPhePheAspThrProProMetLeuPheValPheIleAlaLeuGlyArgTrpLeuGluHisIleAlaLysGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662302",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000341514.11:c.1782C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000052.7:c.1782C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000345728.6:p.Tyr594Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000043.4:p.Tyr594Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 284,
          "endIntronDirection": "-",
          "endIntronOffset": 22223,
          "referenceAllele": "C",
          "start": 284,
          "startIntronDirection": "-",
          "startIntronOffset": 22224
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NR_104109.2:n.285-22224C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702930"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916012652",
      "coordinates": [
        {
          "allele": "G",
          "end": 1946,
          "referenceAllele": "C",
          "start": 1945
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000869",
      "geneNCBI_id": 538,
      "geneSymbol": "ATP7A",
      "hgvs": [
        "NM_001282224.2:c.1782C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001269153.1:p.Tyr594Ter",
        "hgvsWellDefined": "NP_001269153.1:p.Tyr594_Leu1422delinsCysSerValAlaLeuAlaThrAsnLysAlaHisIleLysTyrAspProGluIleIleGlyProArgAspIleIleHisThrIleGluSerLeuGlyPheGluAlaSerLeuValLysLysAspArgSerAlaSerHisLeuAspHisLysArgGluIleArgGlnTrpArgArgSerPheLeuValSerLeuPhePheCysIleProValMetGlyLeuMetIleTyrMetMetValMetAspHisHisPheAlaThrLeuHisHisAsnGlnAsnMetSerLysGluGluMetIleAsnLeuHisSerSerMetPheLeuGluArgGlnIleLeuProGlyLeuSerValMetAsnLeuLeuSerPheLeuLeuCysValProValGlnGlyLysThrSerGluAlaLeuAlaLysLeuIleSerLeuGlnAlaThrGluAlaThrIleValThrLeuAspSerAspAsnIleLeuLeuSerGluGluGlnValAspValGluLeuValGlnArgGlyAspIleIleLysValValProGlyGlyLysPheProValAspGlyArgValIleGluGlyHisSerMetValAspGluSerLeuIleThrGlyGluAlaMetProValAlaLysLysProGlySerThrValIleAlaGlySerIleAsnGlnAsnGlySerLeuLeuIleCysAlaThrHisValGlyAlaAspThrThrLeuSerGlnIleValLysLeuValGluGluAlaGlnThrSerLysAlaProIleGlnGlnPheAlaAspLysLeuSerGlyTyrPheValProPheIleValPheValSerIleAlaThrLeuLeuValTrpIleValIleGlyPheLeuAsnPheGluIleValGluThrTyrPheProGlyTyrAsnArgSerIleSerArgThrGluThrIleIleArgPheAlaPheGlnAlaSerIleThrValLeuCysIleAlaCysProCysSerLeuGlyLeuAlaThrProThrAlaValMetValGlyThrGlyValGlyAlaGlnAsnGlyIleLeuIleLysGlyGlyGluProLeuGluMetAlaHisLysValLysValValValPheAspLysThrGlyThrIleThrHisGlyThrProValValAsnGlnValLysValLeuThrGluSerAsnArgIleSerHisHisLysIleLeuAlaIleValGlyThrAlaGluSerAsnSerGluHisProLeuGlyThrAlaIleThrLysTyrCysLysGlnGluLeuAspThrGluThrLeuGlyThrCysIleAspPheGlnValValProGlyCysGlyIleSerCysLysValThrAsnIleGluGlyLeuLeuHisLysAsnAsnTrpAsnIleGluAspAsnAsnIleLysAsnAlaSerLeuValGlnIleAspAlaSerAsnGluGlnSerSerThrSerSerSerMetIleIleAspAlaGlnIleSerAsnAlaLeuAsnAlaGlnGlnTyrLysValLeuIleGlyAsnArgGluTrpMetIleArgAsnGlyLeuValIleAsnAsnAspValAsnAspPheMetThrGluHisGluArgLysGlyArgThrAlaValLeuValAlaValAspAspGluLeuCysGlyLeuIleAlaIleAlaAspThrValLysProGluAlaGluLeuAlaIleHisIleLeuLysSerMetGlyLeuGluValValLeuMetThrGlyAspAsnSerLysThrAlaArgSerIleAlaSerGlnValGlyIleThrLysValPheAlaGluValLeuProSerHisLysValAlaLysValLysGlnLeuGlnGluGluGlyLysArgValAlaMetValGlyAspGlyIleAsnAspSerProAlaLeuAlaMetAlaAsnValGlyIleAlaIleGlyThrGlyThrAspValAlaIleGluAlaAlaAspValValLeuIleArgAsnAspLeuLeuAspValValAlaSerIleAspLeuSerArgLysThrValLysArgIleArgIleAsnPheValPheAlaLeuIleTyrAsnLeuValGlyIleProIleAlaAlaGlyValPheMetProIleGlyLeuValLeuGlnProTrpMetGlySerAlaAlaMetAlaAlaSerSerValSerValValLeuSerSerLeuPheLeuLysLeuTyrArgLysProThrTyrGluSerTyrGluLeuProAlaArgSerGlnIleGlyGlnLysSerProSerGluIleSerValHisValGlyIleAspAspThrSerArgAsnSerProLysLeuGlyLeuLeuAspArgIleValAsnTyrSerArgAlaSerIleAsnSerLeuLeuSerAspLysArgSerLeuAsnSerValValThrSerGluProAspLysHisSerLeuLeuValGlyAspPheArgGluAspAspAspThrAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS715769"
    }
  ],
  "type": "nucleotide"
}