{
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  "communityStandardTitle": [
    "NM_003227.4(TFR2):c.949C>T (p.Gln317Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21379",
        "RCV": [
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        "hgvsWellDefined": "XP_005250610.1:p.Gln317_Phe801delinsAlaValTyrGlyHisValHisLeuGlyThrGlyAspProTyrThrProGlyPheProSerPheAsnGlnThrGlnPheProProValAlaSerSerGlyLeuProSerIleProAlaGlnProIleSerAlaAspIleAlaSerArgLeuLeuArgLysLeuLysGlyProValAlaProGlnGluTrpGlnGlySerLeuLeuGlySerProTyrHisLeuGlyProGlyProArgLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059218"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1281,
          "referenceAllele": "C",
          "start": 1280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_005250554.3:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250611.1:p.Gln317Ter",
        "hgvsWellDefined": "XP_005250611.1:p.Gln317_Arg763delinsAlaValTyrGlyHisValHisLeuGlyThrGlyAspProTyrThrProGlyPheProSerPheAsnGlnThrGlnPheProProValAlaSerSerGlyLeuProSerIleProAlaGlnProIleSerAlaAspIleAlaSerArgLeuLeuArgLysLeuLysGlyProValAlaProGlnGluTrpGlnGlySerLeuLeuGlySerProTyrHisLeuGlyProGlyProArgLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgSerTrpThrArgSerAlaHisArgSerValArgLeuGluAspProSerAspGlnSerAspGluMetAspArgGluGlyGlnProLeuGlyHisSerArgLeuValTyrAlaTrpGlnAsnTrpAspAsnProProSerProThrProProArgTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS059219"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 823,
          "referenceAllele": "G",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 824
        }
      ],
      "hgvs": [
        "XR_927814.1:n.504-824G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS124219"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826287893",
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_001206855.2:c.436C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193784.1:p.Gln146Ter",
        "hgvsWellDefined": "NP_001193784.1:p.Gln146_Phe630delinsAlaValTyrGlyHisValHisLeuGlyThrGlyAspProTyrThrProGlyPheProSerPheAsnGlnThrGlnPheProProValAlaSerSerGlyLeuProSerIleProAlaGlnProIleSerAlaAspIleAlaSerArgLeuLeuArgLysLeuLysGlyProValAlaProGlnGluTrpGlnGlySerLeuLeuGlySerProTyrHisLeuGlyProGlyProArgLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511885"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1296,
          "referenceAllele": "C",
          "start": 1295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_005250553.4:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005250610.1:p.Gln317Ter",
        "hgvsWellDefined": "XP_005250610.1:p.Gln317_Phe801delinsAlaValTyrGlyHisValHisLeuGlyThrGlyAspProTyrThrProGlyPheProSerPheAsnGlnThrGlnPheProProValAlaSerSerGlyLeuProSerIleProAlaGlnProIleSerAlaAspIleAlaSerArgLeuLeuArgLysLeuLysGlyProValAlaProGlnGluTrpGlnGlySerLeuLeuGlySerProTyrHisLeuGlyProGlyProArgLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533459"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1098,
          "referenceAllele": "C",
          "start": 1097
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "XM_017012573.1:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016868062.1:p.Gln317Ter",
        "hgvsWellDefined": "XP_016868062.1:p.Gln317_Phe801delinsAlaValTyrGlyHisValHisLeuGlyThrGlyAspProTyrThrProGlyPheProSerPheAsnGlnThrGlnPheProProValAlaSerSerGlyLeuProSerIleProAlaGlnProIleSerAlaAspIleAlaSerArgLeuLeuArgLysLeuLysGlyProValAlaProGlnGluTrpGlnGlySerLeuLeuGlySerProTyrHisLeuGlyProGlyProArgLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566145"
    },
    {
      "@id": "http://reg.genome.network/allele/PA341998",
      "coordinates": [
        {
          "allele": "T",
          "end": 992,
          "referenceAllele": "C",
          "start": 991
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_003227.4:c.949C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_003218.2:p.Gln317Ter",
        "hgvsWellDefined": "NP_003218.2:p.Gln317_Phe801delinsAlaValTyrGlyHisValHisLeuGlyThrGlyAspProTyrThrProGlyPheProSerPheAsnGlnThrGlnPheProProValAlaSerSerGlyLeuProSerIleProAlaGlnProIleSerAlaAspIleAlaSerArgLeuLeuArgLysLeuLysGlyProValAlaProGlnGluTrpGlnGlySerLeuLeuGlySerProTyrHisLeuGlyProGlyProArgLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS665940",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000223051.8:c.949C>T"
          },
          "RefSeq": {
            "hgvs": "NM_003227.4:c.949C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000223051.3:p.Gln317Ter"
          },
          "RefSeq": {
            "hgvs": "NP_003218.2:p.Gln317Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826287893",
      "coordinates": [
        {
          "allele": "T",
          "end": 570,
          "referenceAllele": "C",
          "start": 569
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011762",
      "geneNCBI_id": 7036,
      "geneSymbol": "TFR2",
      "hgvs": [
        "NM_001206855.3:c.436C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001193784.1:p.Gln146Ter",
        "hgvsWellDefined": "NP_001193784.1:p.Gln146_Phe630delinsAlaValTyrGlyHisValHisLeuGlyThrGlyAspProTyrThrProGlyPheProSerPheAsnGlnThrGlnPheProProValAlaSerSerGlyLeuProSerIleProAlaGlnProIleSerAlaAspIleAlaSerArgLeuLeuArgLysLeuLysGlyProValAlaProGlnGluTrpGlnGlySerLeuLeuGlySerProTyrHisLeuGlyProGlyProArgLeuArgLeuValValAsnAsnHisArgThrSerThrProIleAsnAsnIlePheGlyCysIleGluGlyArgSerGluProAspHisTyrValValIleGlyAlaGlnArgAspAlaTrpGlyProGlyAlaAlaLysSerAlaValGlyThrAlaIleLeuLeuGluLeuValArgThrPheSerSerMetValSerAsnGlyPheArgProArgArgSerLeuLeuPheIleSerTrpAspGlyGlyAspPheGlySerValGlySerThrGluTrpLeuGluGlyTyrLeuSerValLeuHisLeuLysAlaValValTyrValSerLeuAspAsnAlaValLeuGlyAspAspLysPheHisAlaLysThrSerProLeuLeuThrSerLeuIleGluSerValLeuLysGlnValAspSerProAsnHisSerGlyGlnThrLeuTyrGluGlnValValPheThrAsnProSerTrpAspAlaGluValIleArgProLeuProMetAspSerSerAlaTyrSerPheThrAlaPheValGlyValProAlaValGluPheSerPheMetGluAspAspGlnAlaTyrProPheLeuHisThrLysGluAspThrTyrGluAsnLeuHisLysValLeuGlnGlyArgLeuProAlaValAlaGlnAlaValAlaGlnLeuAlaGlyGlnLeuLeuIleArgLeuSerHisAspArgLeuLeuProLeuAspPheGlyArgTyrGlyAspValValLeuArgHisIleGlyAsnLeuAsnGluPheSerGlyAspLeuLysAlaArgGlyLeuThrLeuGlnTrpValTyrSerAlaArgGlyAspTyrIleArgAlaAlaGluLysLeuArgGlnGluIleTyrSerSerGluGluArgAspGluArgLeuThrArgMetTyrAsnValArgIleMetArgValGluPheTyrPheLeuSerGlnTyrValSerProAlaAspSerProPheArgHisIlePheMetGlyArgGlyAspHisThrLeuGlyAlaLeuLeuAspHisLeuArgLeuLeuArgSerAsnSerSerGlyThrProGlyAlaThrSerSerThrGlyPheGlnGluSerArgPheArgArgGlnLeuAlaLeuLeuThrTrpThrLeuGlnGlyAlaAlaAsnAlaLeuSerGlyAspValTrpAsnIleAspAsnAsnPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714238"
    }
  ],
  "type": "nucleotide"
}