{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA342754269",
  "communityStandardTitle": [
    "NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2741909[alleleid]",
        "alleleId": 2741909,
        "preferredName": "NM_000298.6(PKLR):c.829G>T (p.Glu277Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2577012",
        "RCV": [
          "RCV003323341"
        ],
        "variationId": 2577012
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155264409C>A?assembly=hg19",
        "id": "chr1:g.155264409C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.155294618C>A?assembly=hg38",
        "id": "chr1:g.155294618C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/147689373",
        "rs": 147689373
      }
    ]
  },
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    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155294618,
          "referenceAllele": "C",
          "start": 155294617
        }
      ],
      "hgvs": [
        "NC_000001.11:g.155294618C>A",
        "CM000663.2:g.155294618C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 155264409,
          "referenceAllele": "C",
          "start": 155264408
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      ],
      "hgvs": [
        "NC_000001.10:g.155264409C>A",
        "CM000663.1:g.155264409C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
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          "end": 153531033,
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          "start": 153531032
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      ],
      "hgvs": [
        "NC_000001.9:g.153531033C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
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      ],
      "hgvs": [
        "NG_011677.1:g.11817G>T"
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      "referenceSequence": "http://reg.genome.network/refseq/RS001893"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      ],
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      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748088",
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        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_000298.6:c.829G>T"
          }
        },
        "protein": {
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            "hgvs": "NP_000289.1:p.Glu277Ter"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS261622"
    },
    {
      "coordinates": [
        {
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      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "ENST00000392414.7:c.736G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000376214.3:p.Glu246_Ser543delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS275080"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741814295",
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        {
          "allele": "T",
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      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006359"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405312",
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        {
          "allele": "T",
          "end": 850,
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      ],
      "gene": "http://reg.genome.network/gene/GN009020",
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      "hgvs": [
        "NM_181871.3:c.736G>T"
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_870986.1:p.Glu246_Ser543delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043912"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_005245323.1:p.Glu330_Ser627delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS057155"
    },
    {
      "coordinates": [
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          "allele": "T",
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_006711449.1:p.Glu213_Ser510delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS069106"
    },
    {
      "coordinates": [
        {
          "allele": "T",
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          "referenceAllele": "G",
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        }
      ],
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "XP_011507941.1:p.Glu330_Ala436delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnValTrpSerGluAlaLeuArgCysTrpArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076906"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 801,
          "referenceAllele": "G",
          "start": 800
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_011507942.1:p.Glu213Ter",
        "hgvsWellDefined": "XP_011507942.1:p.Glu213_Ser510delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076907"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2741814295",
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_000289.1:p.Glu277Ter",
        "hgvsWellDefined": "NP_000289.1:p.Glu277_Ser574delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS510777",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000342741.6:c.829G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000298.6:c.829G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339933.4:p.Glu277Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000289.1:p.Glu277Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
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        }
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      "geneSymbol": "PKLR",
      "hgvs": [
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      "proteinEffect": {
        "hgvs": "XP_006711449.1:p.Glu213Ter",
        "hgvsWellDefined": "XP_006711449.1:p.Glu213_Ser510delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS537985"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 814,
          "referenceAllele": "G",
          "start": 813
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_011509640.3:c.637G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507942.1:p.Glu213Ter",
        "hgvsWellDefined": "XP_011507942.1:p.Glu213_Ser510delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541348"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 850,
          "referenceAllele": "G",
          "start": 849
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "XM_017001493.1:c.829G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856982.1:p.Glu277Ter",
        "hgvsWellDefined": "XP_016856982.1:p.Glu277_Ala383delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnValTrpSerGluAlaLeuArgCysTrpArgAlaTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557655"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830405312",
      "coordinates": [
        {
          "allele": "T",
          "end": 801,
          "referenceAllele": "G",
          "start": 800
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009020",
      "geneNCBI_id": 5313,
      "geneSymbol": "PKLR",
      "hgvs": [
        "NM_181871.4:c.736G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_870986.1:p.Glu246Ter",
        "hgvsWellDefined": "NP_870986.1:p.Glu246_Ser543delinsHisGlyValAspIleValPheAlaSerPheValArgLysAlaSerAspValAlaAlaValArgAlaAlaLeuGlyProGluGlyHisGlyIleLysIleIleSerLysIleGluAsnHisGluGlyValLysArgPheAspGluIleLeuGluValSerAspGlyIleMetValAlaArgGlyAspLeuGlyIleGluIleProAlaGluLysValPheLeuAlaGlnLysMetMetIleGlyArgCysAsnLeuAlaGlyLysProValValCysAlaThrGlnMetLeuGluSerMetIleThrLysProArgProThrArgAlaGluThrSerAspValAlaAsnAlaValLeuAspGlyAlaAspCysIleMetLeuSerGlyGluThrAlaLysGlyAsnPheProValGluAlaValLysMetGlnHisAlaIleAlaArgGluAlaGluAlaAlaValTyrHisArgGlnLeuPheGluGluLeuArgArgAlaAlaProLeuSerArgAspProThrGluValThrAlaIleGlyAlaValGluAlaAlaPheLysCysCysAlaAlaAlaIleIleValLeuThrThrThrGlyArgSerAlaGlnLeuLeuSerArgTyrArgProArgAlaAlaValIleAlaValThrArgSerAlaGlnAlaAlaArgGlnValHisLeuCysArgGlyValPheProLeuLeuTyrArgGluProProGluAlaIleTrpAlaAspAspValAspArgArgValGlnPheGlyIleGluSerGlyLysLeuArgGlyPheLeuArgValGlyAspLeuValIleValValThrGlyTrpArgProGlySerGlyTyrThrAsnIleMetArgValLeuSerIleSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701034"
    }
  ],
  "type": "nucleotide"
}