{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA114473",
  "communityStandardTitle": [
    "NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1566979",
        "active": true,
        "id": "COSM1566979"
      },
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=1566980",
        "active": true,
        "id": "COSM1566980"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=15784[alleleid]",
        "alleleId": 15784,
        "preferredName": "NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/745",
        "RCV": [
          "RCV000000781",
          "RCV000727257",
          "RCV001266487",
          "RCV002512617",
          "RCV004528061"
        ],
        "variationId": 745
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/4-15560806-C-T",
        "id": "4-15560806-C-T",
        "variant": "4:15560806 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15560806C>T?assembly=hg19",
        "id": "chr4:g.15560806C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr4:g.15559183C>T?assembly=hg38",
        "id": "chr4:g.15559183C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/118204053",
        "rs": 118204053
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15560806-C-T?dataset=gnomad_r2_1",
        "id": "4-15560806-C-T",
        "variant": "4:15560806 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15559183-C-T?dataset=gnomad_r3",
        "id": "4-15559183-C-T",
        "variant": "4:15559183 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/4-15559183-C-T?dataset=gnomad_r4",
        "id": "4-15559183-C-T",
        "variant": "4:15559183 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15559183,
          "referenceAllele": "C",
          "start": 15559182
        }
      ],
      "hgvs": [
        "NC_000004.12:g.15559183C>T",
        "CM000666.2:g.15559183C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000052"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15560806,
          "referenceAllele": "C",
          "start": 15560805
        }
      ],
      "hgvs": [
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      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000028"
    },
    {
      "chromosome": "4",
      "coordinates": [
        {
          "allele": "T",
          "end": 15169904,
          "referenceAllele": "C",
          "start": 15169903
        }
      ],
      "hgvs": [
        "NC_000004.10:g.15169904C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000004"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 94318,
          "referenceAllele": "C",
          "start": 94317
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      ],
      "hgvs": [
        "NG_013035.1:g.94318C>T",
        "LRG_697:g.94318C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002679"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2866,
          "referenceAllele": "C",
          "start": 2865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000389652.11:c.2848C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000374303.8:p.Arg950Ter",
        "hgvsWellDefined": "ENSP00000374303.8:p.Arg950_Arg1632delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerSerGluGlySerGlyIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysMetSerAsnMetLeuLysLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752828"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3042,
          "referenceAllele": "C",
          "start": 3041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000424120.6:c.2848C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000403465.1:p.Arg950Ter",
        "hgvsWellDefined": "ENSP00000403465.1:p.Arg950_Arg1620delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS755016",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.2848C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.2848C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Arg950Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Arg950Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3087,
          "referenceAllele": "C",
          "start": 3086
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000503292.6:c.2848C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000421809.1:p.Arg950Ter",
        "hgvsWellDefined": "ENSP00000421809.1:p.Arg950_Arg1620delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757970"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2850,
          "referenceAllele": "C",
          "start": 2849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000506643.5:c.2701C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000422931.2:p.Arg901Ter",
        "hgvsWellDefined": "ENSP00000422931.2:p.Arg901_Arg1571delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS758090"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2701,
          "referenceAllele": "C",
          "start": 2700
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000634028.2:c.2701C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000488669.2:p.Arg901Ter",
        "hgvsWellDefined": "ENSP00000488669.2:p.Arg901_Ala1411delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnAlaGlnAlaMetGluIlePheLeuPheLysLysProSerIleSerTrpProPheGlnCysSerAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762552"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2838,
          "referenceAllele": "C",
          "start": 2837
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "ENST00000650860.2:c.2701C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000498775.1:p.Arg901Ter",
        "hgvsWellDefined": "ENSP00000498775.1:p.Arg901_Ser963delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgProPhePhePheLeuGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS771356"
    },
    {
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        {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081101"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2920,
          "referenceAllele": "C",
          "start": 2919
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
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      "hgvs": [
        "XM_011513870.1:c.2848C>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011512172.1:p.Arg950_Arg1626delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081102"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "C",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011512173.1:p.Arg901_Arg1577delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaLeuIleLeuIleIleGlnGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081103"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "referenceAllele": "C",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011512174.1:p.Arg950Ter",
        "hgvsWellDefined": "XP_011512174.1:p.Arg950_His1013delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgValLeuIleLeuPheCysAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081104"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "referenceAllele": "C",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011512175.1:p.Arg950Ter",
        "hgvsWellDefined": "XP_011512175.1:p.Arg950_Ser1012delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgProPhePhePheLeuGluSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS081105"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "referenceAllele": "C",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
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      "hgvs": [
        "XM_011513872.3:c.2848C>T"
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      "proteinEffect": {
        "hgvs": "XP_011512174.1:p.Arg950Ter",
        "hgvsWellDefined": "XP_011512174.1:p.Arg950_His1013delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleArgValLeuIleLeuPheCysAsnHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS543070"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "C",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_016863971.1:p.Arg901_Arg1571delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS562982"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3048,
          "referenceAllele": "C",
          "start": 3047
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "XR_001741296.1:n.3048C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS591311"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573075279",
      "coordinates": [
        {
          "allele": "T",
          "end": 3042,
          "referenceAllele": "C",
          "start": 3041
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378615.1:c.2848C>T"
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      "proteinEffect": {
        "hgvs": "NP_001365544.1:p.Arg950Ter",
        "hgvsWellDefined": "NP_001365544.1:p.Arg950_Arg1620delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721805",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000424120.6:c.2848C>T"
          },
          "RefSeq": {
            "hgvs": "NM_001378615.1:c.2848C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000403465.1:p.Arg950Ter"
          },
          "RefSeq": {
            "hgvs": "NP_001365544.1:p.Arg950Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828787272",
      "coordinates": [
        {
          "allele": "T",
          "end": 2842,
          "referenceAllele": "C",
          "start": 2841
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029253",
      "geneNCBI_id": 57545,
      "geneSymbol": "CC2D2A",
      "hgvs": [
        "NM_001378617.1:c.2701C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001365546.1:p.Arg901Ter",
        "hgvsWellDefined": "NP_001365546.1:p.Arg901_Arg1571delinsAspArgAsnValIleGluThrLysGluHisIleAspThrHisArgAlaIleValAlaLysTyrLeuGlnGlnValArgGluSerValIleAsnArgPheLeuIleAlaLysGlnTyrPheLeuLeuAlaAspMetIleValGluGluGluValProAsnIleSerIleLeuGlyLeuSerLeuPheLysLeuAlaGluGlnLysArgProLeuArgProArgArgLysGlyArgLysLysValThrAlaGlnAsnLeuSerAspGlyAspIleLysLeuLeuValAsnIleValArgAlaTyrAspIleProValArgLysProAlaValSerLysPheGlnGlnProSerArgSerSerArgMetPheSerGluLysHisAlaAlaSerProSerThrTyrSerProThrHisAsnAlaAspTyrProLeuGlyGlnValLeuValArgProPheValGluValSerPheGlnArgThrValCysHisThrThrThrAlaGluGlyProAsnProSerTrpAsnGluGluLeuGluLeuProPheArgAlaProAsnGlyAspTyrSerThrAlaSerLeuGlnSerValLysAspValValPheIleAsnIlePheAspGluValLeuHisAspValLeuGluAspAspArgGluArgGlySerGlyIleHisThrArgIleGluArgHisTrpLeuGlyCysValLysMetProPheSerThrIleTyrPheGlnAlaArgIleAspGlyThrPheLysIleAspIleProProValLeuLeuGlyTyrSerLysGluArgAsnMetIleLeuGluArgGlyPheAspSerValArgSerLeuSerGluGlySerTyrIleThrLeuPheIleThrIleGluProGlnLeuValProGlyGluSerIleArgGluLysPheGluSerGlnGluAspGluLysLeuLeuGlnAlaThrGluLysPheGlnAlaGluCysAlaLeuLysPheProAsnArgGlnCysLeuThrThrValIleAspIleSerGlyLysThrValPheIleThrArgTyrLeuLysProLeuAsnProProGlnGluLeuLeuAsnValTyrProAsnAsnLeuGlnAlaThrAlaGluLeuValAlaArgTyrValSerLeuIleProPheLeuProAspThrValSerPheGlyGlyIleCysAspLeuTrpSerThrSerAspGlnPheLeuAspLeuLeuAlaGlyAspGluGluGluHisAlaValLeuLeuCysAsnTyrPheLeuSerLeuGlyLysLysAlaTrpLeuLeuMetGlyAsnAlaIleProGluGlyProThrAlaTyrValLeuThrTrpGluGlnGlyArgTyrLeuIleTrpAsnProCysSerGlyHisPheTyrGlyGlnPheAspThrPheCysProLeuLysAsnValGlyCysLeuIleGlyProAspAsnIleTrpPheAsnIleGlnArgTyrGluSerProLeuArgIleAsnPheAspValThrArgProLysLeuTrpLysSerPhePheSerArgSerLeuProTyrProGlyLeuSerSerValGlnProGluGluLeuIleTyrGlnArgSerAspLysAlaAlaAlaAlaGluLeuGlnAspArgIleGluLysIleLeuLysGluLysIleMetAspTrpArgProArgHisLeuThrArgTrpAsnArgTyrCysThrSerThrLeuArgHisPheLeuProLeuLeuGluLysSerGlnGlyGluAspValGluAspAspHisArgAlaGluLeuLeuLysGlnLeuGlyAspTyrArgPheSerGlyPheProLeuHisMetProTyrSerGluValLysProLeuIleAspAlaValTyrSerThrGlyValHisAsnIleAspValProAsnValGluPheAlaLeuAlaValTyrIleHisProTyrProLysAsnValLeuSerValTrpIleTyrValAlaSerLeuIleArgAsnArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS721806"
    }
  ],
  "type": "nucleotide"
}