{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA393765780",
  "communityStandardTitle": [
    "NM_002693.3(POLG):c.922C>T (p.Gln308Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=482081[alleleid]",
        "alleleId": 482081,
        "preferredName": "NM_002693.3(POLG):c.922C>T (p.Gln308Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/489385",
        "RCV": [
          "RCV000579146",
          "RCV002529053"
        ],
        "variationId": 489385
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89872275G>A?assembly=hg19",
        "id": "chr15:g.89872275G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.89329044G>A?assembly=hg38",
        "id": "chr15:g.89329044G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1555453824",
        "rs": 1555453824
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-89329044-G-A?dataset=gnomad_r4",
        "id": "15-89329044-G-A",
        "variant": "15:89329044 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89329044,
          "referenceAllele": "G",
          "start": 89329043
        }
      ],
      "hgvs": [
        "NC_000015.10:g.89329044G>A",
        "CM000677.2:g.89329044G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 89872275,
          "referenceAllele": "G",
          "start": 89872274
        }
      ],
      "hgvs": [
        "NC_000015.9:g.89872275G>A",
        "CM000677.1:g.89872275G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 87673279,
          "referenceAllele": "G",
          "start": 87673278
        }
      ],
      "hgvs": [
        "NC_000015.8:g.87673279G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10752,
          "referenceAllele": "C",
          "start": 10751
        }
      ],
      "hgvs": [
        "NG_008218.1:g.10752C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000956"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10752,
          "referenceAllele": "C",
          "start": 10751
        }
      ],
      "hgvs": [
        "NG_008218.2:g.10752C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616096"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1866,
          "referenceAllele": "C",
          "start": 1865
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636937.2:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000516154.1:p.Gln308Ter",
        "hgvsWellDefined": "ENSP00000516154.1:p.Gln308_Pro1239delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS906362"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.11:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Gln308Ter",
        "hgvsWellDefined": "ENSP00000268124.5:p.Gln308_Pro1239delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS743029",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.922C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.922C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Gln308Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Gln308Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 523,
          "referenceAllele": "C",
          "start": 522
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000530292.3:c.523C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000432885.2:p.Gln175Ter",
        "hgvsWellDefined": "ENSP00000432885.2:p.Gln175_Gly1035delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrSerLysIleProSerSerTyrGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS759172"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1120,
          "referenceAllele": "C",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000635986.2:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490653.2:p.Gln308Ter",
        "hgvsWellDefined": "ENSP00000490653.2:p.Gln308_His995delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpHisTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762785"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000636774.1:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489799.1:p.Gln308Ter",
        "hgvsWellDefined": "ENSP00000489799.1:p.Gln308_Leu482delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluSerGlyLeuAlaLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763370"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 579,
          "referenceAllele": "C",
          "start": 578
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000666746.1:c.579C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS772952"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1120,
          "referenceAllele": "C",
          "start": 1119
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000672071.1:n.1120C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS773259"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1256,
          "referenceAllele": "C",
          "start": 1255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000268124.9:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000268124.5:p.Gln308Ter",
        "hgvsWellDefined": "ENSP00000268124.5:p.Gln308_Pro1239delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS252051"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1258,
          "referenceAllele": "C",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000442287.6:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000399851.2:p.Gln308Ter",
        "hgvsWellDefined": "ENSP00000399851.2:p.Gln308_Pro1239delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS296812"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1383,
          "referenceAllele": "C",
          "start": 1382
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "ENST00000631044.2:c.*305C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000486730.1:n.*305C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS407466"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620731",
      "coordinates": [
        {
          "allele": "T",
          "end": 1192,
          "referenceAllele": "C",
          "start": 1191
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.1:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Gln308Ter",
        "hgvsWellDefined": "NP_001119603.1:p.Gln308_Pro1239delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS011503"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658692617",
      "coordinates": [
        {
          "allele": "T",
          "end": 1204,
          "referenceAllele": "C",
          "start": 1203
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.2:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Gln308Ter",
        "hgvsWellDefined": "NP_002684.1:p.Gln308_Pro1239delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS027982"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825620731",
      "coordinates": [
        {
          "allele": "T",
          "end": 1221,
          "referenceAllele": "C",
          "start": 1220
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_001126131.2:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001119603.1:p.Gln308Ter",
        "hgvsWellDefined": "NP_001119603.1:p.Gln308_Pro1239delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS676825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658692617",
      "coordinates": [
        {
          "allele": "T",
          "end": 1233,
          "referenceAllele": "C",
          "start": 1232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009179",
      "geneNCBI_id": 5428,
      "geneSymbol": "POLG",
      "hgvs": [
        "NM_002693.3:c.922C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_002684.1:p.Gln308Ter",
        "hgvsWellDefined": "NP_002684.1:p.Gln308_Pro1239delinsArgSerLeuTrpIleAlaAlaLysGlnGlyLysHisLysValGlnProProThrLysGlnGlyGlnLysSerGlnArgLysAlaArgArgGlyProAlaIleSerSerTrpAspTrpLeuAspIleSerSerValAsnSerLeuAlaGluValHisArgLeuTyrValGlyGlyProProLeuGluLysGluProArgGluLeuPheValLysGlyThrMetLysAspIleArgGluAsnPheGlnAspLeuMetGlnTyrCysAlaGlnAspValTrpAlaThrHisGluValPheGlnGlnGlnLeuProLeuPheLeuGluArgCysProHisProValThrLeuAlaGlyMetLeuGluMetGlyValSerTyrLeuProValAsnGlnAsnTrpGluArgTyrLeuAlaGluAlaGlnGlyThrTyrGluGluLeuGlnArgGluMetLysLysSerLeuMetAspLeuAlaAsnAspAlaCysGlnLeuLeuSerGlyGluArgTyrLysGluAspProTrpLeuTrpAspLeuGluTrpAspLeuGlnGluPheLysGlnLysLysAlaLysLysValLysLysGluProAlaThrAlaSerLysLeuProIleGluGlyAlaGlyAlaProGlyAspProMetAspGlnGluAspLeuGlyProCysSerGluGluGluGluPheGlnGlnAspValMetAlaArgAlaCysLeuGlnLysLeuLysGlyThrThrGluLeuLeuProLysArgProGlnHisLeuProGlyHisProGlyTrpTyrArgLysLeuCysProArgLeuAspAspProAlaTrpThrProGlyProSerLeuLeuSerLeuGlnMetArgValThrProLysLeuMetAlaLeuThrTrpAspGlyPheProLeuHisTyrSerGluArgHisGlyTrpGlyTyrLeuValProGlyArgArgAspAsnLeuAlaLysLeuProThrGlyThrThrLeuGluSerAlaGlyValValCysProTyrArgAlaIleGluSerLeuTyrArgLysHisCysLeuGluGlnGlyLysGlnGlnLeuMetProGlnGluAlaGlyLeuAlaGluGluPheLeuLeuThrAspAsnSerAlaIleTrpGlnThrValGluGluLeuAspTyrLeuGluValGluAlaGluAlaLysMetGluAsnLeuArgAlaAlaValProGlyGlnProLeuAlaLeuThrAlaArgGlyGlyProLysAspThrGlnProSerTyrHisHisGlyAsnGlyProTyrAsnAspValAspIleProGlyCysTrpPhePheLysLeuProHisLysAspGlyAsnSerCysAsnValGlySerProPheAlaLysAspPheLeuProLysMetGluAspGlyThrLeuGlnAlaGlyProGlyGlyAlaSerGlyProArgAlaLeuGluIleAsnLysMetIleSerPheTrpArgAsnAlaHisLysArgIleSerSerGlnMetValValTrpLeuProArgSerAlaLeuProArgAlaValIleArgHisProAspTyrAspGluGluGlyLeuTyrGlyAlaIleLeuProGlnValValThrAlaGlyThrIleThrArgArgAlaValGluProThrTrpLeuThrAlaSerAsnAlaArgProAspArgValGlySerGluLeuLysAlaMetValGlnAlaProProGlyTyrThrLeuValGlyAlaAspValAspSerGlnGluLeuTrpIleAlaAlaValLeuGlyAspAlaHisPheAlaGlyMetHisGlyCysThrAlaPheGlyTrpMetThrLeuGlnGlyArgLysSerArgGlyThrAspLeuHisSerLysThrAlaThrThrValGlyIleSerArgGluHisAlaLysIlePheAsnTyrGlyArgIleTyrGlyAlaGlyGlnProPheAlaGluArgLeuLeuMetGlnPheAsnHisArgLeuThrGlnGlnGluAlaAlaGluLysAlaGlnGlnMetTyrAlaAlaThrLysGlyLeuArgTrpTyrArgLeuSerAspGluGlyGluTrpLeuValArgGluLeuAsnLeuProValAspArgThrGluGlyGlyTrpIleSerLeuGlnAspLeuArgLysValGlnArgGluThrAlaArgLysSerGlnTrpLysLysTrpGluValValAlaGluArgAlaTrpLysGlyGlyThrGluSerGluMetPheAsnLysLeuGluSerIleAlaThrSerAspIleProArgThrProValLeuGlyCysCysIleSerArgAlaLeuGluProSerAlaValGlnGluGluPheMetThrSerArgValAsnTrpValValGlnSerSerAlaValAspTyrLeuHisLeuMetLeuValAlaMetLysTrpLeuPheGluGluPheAlaIleAspGlyArgPheCysIleSerIleHisAspGluValArgTyrLeuValArgGluGluAspArgTyrArgAlaAlaLeuAlaLeuGlnIleThrAsnLeuLeuThrArgCysMetPheAlaTyrLysLeuGlyLeuAsnAspLeuProGlnSerValAlaPhePheSerAlaValAspIleAspArgCysLeuArgLysGluValThrMetAspCysLysThrProSerAsnProThrGlyMetGluArgArgTyrGlyIleProGlnGlyGluAlaLeuAspIleTyrGlnIleIleGluLeuThrLysGlySerLeuGluLysArgSerGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS727303",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000268124.11:c.922C>T"
          },
          "RefSeq": {
            "hgvs": "NM_002693.3:c.922C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000268124.5:p.Gln308Ter"
          },
          "RefSeq": {
            "hgvs": "NP_002684.1:p.Gln308Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}