{
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  "@id": "http://reg.genome.network/allele/CA376552530",
  "communityStandardTitle": [
    "NM_020975.6(RET):c.1783G>T (p.Glu595Ter)"
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      "referenceSequence": "http://reg.genome.network/refseq/RS773184"
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      "referenceSequence": "http://reg.genome.network/refseq/RS773367"
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247408"
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        {
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    {
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        {
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    {
      "coordinates": [
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          "allele": "T",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS402558"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941479",
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        {
          "allele": "T",
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      ],
      "gene": "http://reg.genome.network/gene/GN009967",
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      "hgvs": [
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        "hgvsWellDefined": "NP_065681.1:p.Glu595_Phe1072delinsProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036456"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054692",
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "G",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.4:c.1783G>T",
        "LRG_518t1:c.1783G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Glu595Ter",
        "hgvsWellDefined": "NP_066124.1:p.Glu595_Ser1114delinsProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036733"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2015,
          "referenceAllele": "G",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "XM_011540027.1:c.1783G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011538329.1:p.Glu595Ter",
        "hgvsWellDefined": "XP_011538329.1:p.Glu595_Ser1114delinsProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS106977"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828047426",
      "coordinates": [
        {
          "allele": "T",
          "end": 1378,
          "referenceAllele": "G",
          "start": 1377
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_001355216.1:c.1021G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001342145.1:p.Glu341Ter",
        "hgvsWellDefined": "NP_001342145.1:p.Glu341_Phe818delinsProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS522845"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941479",
      "coordinates": [
        {
          "allele": "T",
          "end": 2015,
          "referenceAllele": "G",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.5:c.1783G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Glu595Ter",
        "hgvsWellDefined": "NP_065681.1:p.Glu595_Phe1072delinsProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS525983"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054692",
      "coordinates": [
        {
          "allele": "T",
          "end": 2015,
          "referenceAllele": "G",
          "start": 2014
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.5:c.1783G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Glu595Ter",
        "hgvsWellDefined": "NP_066124.1:p.Glu595_Ser1114delinsProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916054692",
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "G",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020975.6:c.1783G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_066124.1:p.Glu595Ter",
        "hgvsWellDefined": "NP_066124.1:p.Glu595_Ser1114delinsProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyMetSerAspProAsnTrpProGlyGluSerProValProLeuThrArgAlaAspGlyThrAsnThrGlyPheProArgTyrProAsnAspSerValTyrAlaAsnTrpMetLeuSerProSerAlaAlaLysLeuMetAspThrPheAspSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670171",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000355710.8:c.1783G>T"
          },
          "RefSeq": {
            "hgvs": "NM_020975.6:c.1783G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000347942.3:p.Glu595Ter"
          },
          "RefSeq": {
            "hgvs": "NP_066124.1:p.Glu595Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829941479",
      "coordinates": [
        {
          "allele": "T",
          "end": 1973,
          "referenceAllele": "G",
          "start": 1972
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009967",
      "geneNCBI_id": 5979,
      "geneSymbol": "RET",
      "hgvs": [
        "NM_020630.6:c.1783G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_065681.1:p.Glu595Ter",
        "hgvsWellDefined": "NP_065681.1:p.Glu595_Phe1072delinsProGlyGluProArgGlyIleLysAlaGlyTyrGlyThrCysAsnCysPheProGluGluGluLysCysPheCysGluProGluAspIleGlnAspProLeuCysAspGluLeuCysArgThrValIleAlaAlaAlaValLeuPheSerPheIleValSerValLeuLeuSerAlaPheCysIleHisCysTyrHisLysPheAlaHisLysProProIleSerSerAlaGluMetThrPheArgArgProAlaGlnAlaPheProValSerTyrSerSerSerGlyAlaArgArgProSerLeuAspSerMetGluAsnGlnValSerValAspAlaPheLysIleLeuGluAspProLysTrpGluPheProArgLysAsnLeuValLeuGlyLysThrLeuGlyGluGlyGluPheGlyLysValValLysAlaThrAlaPheHisLeuLysGlyArgAlaGlyTyrThrThrValAlaValLysMetLeuLysGluAsnAlaSerProSerGluLeuArgAspLeuLeuSerGluPheAsnValLeuLysGlnValAsnHisProHisValIleLysLeuTyrGlyAlaCysSerGlnAspGlyProLeuLeuLeuIleValGluTyrAlaLysTyrGlySerLeuArgGlyPheLeuArgGluSerArgLysValGlyProGlyTyrLeuGlySerGlyGlySerArgAsnSerSerSerLeuAspHisProAspGluArgAlaLeuThrMetGlyAspLeuIleSerPheAlaTrpGlnIleSerGlnGlyMetGlnTyrLeuAlaGluMetLysLeuValHisArgAspLeuAlaAlaArgAsnIleLeuValAlaGluGlyArgLysMetLysIleSerAspPheGlyLeuSerArgAspValTyrGluGluAspSerTyrValLysArgSerGlnGlyArgIleProValLysTrpMetAlaIleGluSerLeuPheAspHisIleTyrThrThrGlnSerAspValTrpSerPheGlyValLeuLeuTrpGluIleValThrLeuGlyGlyAsnProTyrProGlyIleProProGluArgLeuPheAsnLeuLeuLysThrGlyHisArgMetGluArgProAspAsnCysSerGluGluMetTyrArgLeuMetLeuGlnCysTrpLysGlnGluProAspLysArgProValPheAlaAspIleSerLysAspLeuGluLysMetMetValLysArgArgAspTyrLeuAspLeuAlaAlaSerThrProSerAspSerLeuIleTyrAspAspGlyLeuSerGluGluGluThrProLeuValAspCysAsnAsnAlaProLeuProArgAlaLeuProSerThrTrpIleGluAsnLysLeuTyrGlyArgIleSerHisAlaPheThrArgPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS728447"
    }
  ],
  "type": "nucleotide"
}