{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393766544",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.846C>G (p.Tyr282Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1431216[alleleid]",
        "alleleId": 1431216,
        "preferredName": "NM_002693.3(POLG):c.846C>G (p.Tyr282Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1398287",
        "RCV": [
          "RCV001912854"
        ],
        "variationId": 1398287
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89873321G>C?assembly=hg19",
        "id": "chr15:g.89873321G>C"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89330090G>C?assembly=hg38",
        "id": "chr15:g.89330090G>C"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/2152068651",
        "rs": 2152068651
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89330090,
          "referenceAllele": "G",
          "start": 89330089
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89330090G>C",
        "CM000677.2:g.89330090G>C"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 89873321,
          "referenceAllele": "G",
          "start": 89873320
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89873321G>C",
        "CM000677.1:g.89873321G>C"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "C",
          "end": 87674325,
          "referenceAllele": "G",
          "start": 87674324
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87674325G>C"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9706,
          "referenceAllele": "C",
          "start": 9705
        }
      ],
      "hgvs": [
        "NG_008218.1:g.9706C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 9706,
          "referenceAllele": "C",
          "start": 9705
        }
      ],
      "hgvs": [
        "NG_008218.2:g.9706C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1790,
          "referenceAllele": "C",
          "start": 1789
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Tyr282Ter",
        "hgvsWellDefined": "ENSP00000516154.1:p.Tyr282_Pro1239delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Tyr282Ter",
        "hgvsWellDefined": "ENSP00000268124.5:p.Tyr282_Pro1239delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.846C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.846C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Tyr282Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Tyr282Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 447,
          "referenceAllele": "C",
          "start": 446
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.447C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Tyr149Ter",
        "hgvsWellDefined": "ENSP00000432885.2:p.Tyr149_Gly1035delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrSerLysIleProSerSerTyrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Tyr282Ter",
        "hgvsWellDefined": "ENSP00000490653.2:p.Tyr282_His995delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:p.Tyr282Ter",
        "hgvsWellDefined": "ENSP00000489799.1:p.Tyr282_Leu482delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluSerGlyLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 503,
          "referenceAllele": "C",
          "start": 502
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.503C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1044,
          "referenceAllele": "C",
          "start": 1043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.1044C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Tyr282Ter",
        "hgvsWellDefined": "ENSP00000268124.5:p.Tyr282_Pro1239delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1182,
          "referenceAllele": "C",
          "start": 1181
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Tyr282Ter",
        "hgvsWellDefined": "ENSP00000399851.2:p.Tyr282_Pro1239delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*229C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*229C>G"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620694",
      "coordinates": [
        {
          "allele": "G",
          "end": 1116,
          "referenceAllele": "C",
          "start": 1115
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Tyr282Ter",
        "hgvsWellDefined": "NP_001119603.1:p.Tyr282_Pro1239delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573227034",
      "coordinates": [
        {
          "allele": "G",
          "end": 1128,
          "referenceAllele": "C",
          "start": 1127
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Tyr282Ter",
        "hgvsWellDefined": "NP_002684.1:p.Tyr282_Pro1239delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620694",
      "coordinates": [
        {
          "allele": "G",
          "end": 1145,
          "referenceAllele": "C",
          "start": 1144
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Tyr282Ter",
        "hgvsWellDefined": "NP_001119603.1:p.Tyr282_Pro1239delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573227034",
      "coordinates": [
        {
          "allele": "G",
          "end": 1157,
          "referenceAllele": "C",
          "start": 1156
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.846C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Tyr282Ter",
        "hgvsWellDefined": "NP_002684.1:p.Tyr282_Pro1239delinsLeuIleGlnGlySerArgMetArgPheLeuAspThrMetSerMetHisMetAlaIleSerGlyLeuSerSerPheGlnArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.846C>G"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.846C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Tyr282Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Tyr282Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}