{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5950551",
  "communityStandardTitle": [
    "NM_000536.4(RAG2):c.595G>T (p.Glu199Ter)"
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/463972",
        "RCV": [
          "RCV000547792",
          "RCV001834778"
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        "variationId": 463972
      }
    ],
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      {
        "@id": "http://exac.broadinstitute.org/variant/11-36615124-C-A",
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    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36615124C>A?assembly=hg19",
        "id": "chr11:g.36615124C>A"
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    ],
    "MyVariantInfo_hg38": [
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        "@id": "http://myvariant.info/v1/variant/chr11:g.36593574C>A?assembly=hg38",
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/748727021",
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      "referenceSequence": "http://reg.genome.network/refseq/RS256535"
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          "endIntronDirection": "+",
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      "proteinEffect": {
        "hgvs": "NP_001230715.1:p.Glu199Ter",
        "hgvsWellDefined": "NP_001230715.1:p.Glu199_Asp527delinsLeuGlnAspGlyLeuSerPheHisValSerIleAlaLysAsnAspThrIleTyrIleLeuGlyGlyHisSerLeuAlaAsnAsnIleArgProAlaAsnLeuTyrArgIleArgValAspLeuProLeuGlySerProAlaValAsnCysThrValLeuProGlyGlyIleSerValSerSerAlaIleLeuThrGlnThrAsnAsnAspGluPheValIleValGlyGlyTyrGlnLeuGluAsnGlnLysArgMetIleCysAsnIleIleSerLeuGluAspAsnLysIleGluIleArgGluMetGluThrProAspTrpThrProAspIleLysHisSerLysIleTrpPheGlySerAsnMetGlyAsnGlyThrValPheLeuGlyIleProGlyAspAsnLysGlnValValSerGluGlyPheTyrPheTyrMetLeuLysCysAlaGluAspAspThrAsnGluGluGlnThrThrPheThrAsnSerGlnThrSerThrGluAspProGlyAspSerThrProPheGluAspSerGluGluPheCysPheSerAlaGluAlaAsnSerPheAspGlyAspAspGluPheAspThrTyrAsnGluAspAspGluGluAspGluSerGluThrGlyTyrTrpIleThrCysCysProThrCysAspValAspIleAsnThrTrpValProPheTyrSerThrGluLeuAsnLysProAlaMetIleTyrCysSerHisGlyAspGlyHisTrpValHisAlaGlnCysMetAspLeuAlaGluArgThrLeuIleHisLeuSerAlaGlySerAsnLysTyrTyrCysAsnGluHisValGluIleAlaArgAlaLeuHisThrProGlnArgValLeuProLeuLysLysProProMetLysSerLeuArgLysLysGlySerGlyLysIleLeuThrProAlaLysLysSerPheLeuArgArgLeuPheAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS018615"
    },
    {
      "@id": "http://reg.genome.network/allele/PA658677168",
      "coordinates": [
        {
          "allele": "T",
          "end": 757,
          "referenceAllele": "G",
          "start": 756
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_000536.4:c.595G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000527.2:p.Glu199Ter",
        "hgvsWellDefined": "NP_000527.2:p.Glu199_Asp527delinsLeuGlnAspGlyLeuSerPheHisValSerIleAlaLysAsnAspThrIleTyrIleLeuGlyGlyHisSerLeuAlaAsnAsnIleArgProAlaAsnLeuTyrArgIleArgValAspLeuProLeuGlySerProAlaValAsnCysThrValLeuProGlyGlyIleSerValSerSerAlaIleLeuThrGlnThrAsnAsnAspGluPheValIleValGlyGlyTyrGlnLeuGluAsnGlnLysArgMetIleCysAsnIleIleSerLeuGluAspAsnLysIleGluIleArgGluMetGluThrProAspTrpThrProAspIleLysHisSerLysIleTrpPheGlySerAsnMetGlyAsnGlyThrValPheLeuGlyIleProGlyAspAsnLysGlnValValSerGluGlyPheTyrPheTyrMetLeuLysCysAlaGluAspAspThrAsnGluGluGlnThrThrPheThrAsnSerGlnThrSerThrGluAspProGlyAspSerThrProPheGluAspSerGluGluPheCysPheSerAlaGluAlaAsnSerPheAspGlyAspAspGluPheAspThrTyrAsnGluAspAspGluGluAspGluSerGluThrGlyTyrTrpIleThrCysCysProThrCysAspValAspIleAsnThrTrpValProPheTyrSerThrGluLeuAsnLysProAlaMetIleTyrCysSerHisGlyAspGlyHisTrpValHisAlaGlnCysMetAspLeuAlaGluArgThrLeuIleHisLeuSerAlaGlySerAsnLysTyrTyrCysAsnGluHisValGluIleAlaArgAlaLeuHisThrProGlnArgValLeuProLeuLysLysProProMetLysSerLeuArgLysLysGlySerGlyLysIleLeuThrProAlaLysLysSerPheLeuArgArgLeuPheAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674882",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311485.8:c.595G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000536.4:c.595G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308620.4:p.Glu199Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000527.2:p.Glu199Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826339085",
      "coordinates": [
        {
          "allele": "T",
          "end": 952,
          "referenceAllele": "G",
          "start": 951
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_001243785.2:c.595G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230714.1:p.Glu199Ter",
        "hgvsWellDefined": "NP_001230714.1:p.Glu199_Asp527delinsLeuGlnAspGlyLeuSerPheHisValSerIleAlaLysAsnAspThrIleTyrIleLeuGlyGlyHisSerLeuAlaAsnAsnIleArgProAlaAsnLeuTyrArgIleArgValAspLeuProLeuGlySerProAlaValAsnCysThrValLeuProGlyGlyIleSerValSerSerAlaIleLeuThrGlnThrAsnAsnAspGluPheValIleValGlyGlyTyrGlnLeuGluAsnGlnLysArgMetIleCysAsnIleIleSerLeuGluAspAsnLysIleGluIleArgGluMetGluThrProAspTrpThrProAspIleLysHisSerLysIleTrpPheGlySerAsnMetGlyAsnGlyThrValPheLeuGlyIleProGlyAspAsnLysGlnValValSerGluGlyPheTyrPheTyrMetLeuLysCysAlaGluAspAspThrAsnGluGluGlnThrThrPheThrAsnSerGlnThrSerThrGluAspProGlyAspSerThrProPheGluAspSerGluGluPheCysPheSerAlaGluAlaAsnSerPheAspGlyAspAspGluPheAspThrTyrAsnGluAspAspGluGluAspGluSerGluThrGlyTyrTrpIleThrCysCysProThrCysAspValAspIleAsnThrTrpValProPheTyrSerThrGluLeuAsnLysProAlaMetIleTyrCysSerHisGlyAspGlyHisTrpValHisAlaGlnCysMetAspLeuAlaGluArgThrLeuIleHisLeuSerAlaGlySerAsnLysTyrTyrCysAsnGluHisValGluIleAlaArgAlaLeuHisThrProGlnArgValLeuProLeuLysLysProProMetLysSerLeuArgLysLysGlySerGlyLysIleLeuThrProAlaLysLysSerPheLeuArgArgLeuPheAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680268"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916007246",
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "G",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009832",
      "geneNCBI_id": 5897,
      "geneSymbol": "RAG2",
      "hgvs": [
        "NM_001243786.2:c.595G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001230715.1:p.Glu199Ter",
        "hgvsWellDefined": "NP_001230715.1:p.Glu199_Asp527delinsLeuGlnAspGlyLeuSerPheHisValSerIleAlaLysAsnAspThrIleTyrIleLeuGlyGlyHisSerLeuAlaAsnAsnIleArgProAlaAsnLeuTyrArgIleArgValAspLeuProLeuGlySerProAlaValAsnCysThrValLeuProGlyGlyIleSerValSerSerAlaIleLeuThrGlnThrAsnAsnAspGluPheValIleValGlyGlyTyrGlnLeuGluAsnGlnLysArgMetIleCysAsnIleIleSerLeuGluAspAsnLysIleGluIleArgGluMetGluThrProAspTrpThrProAspIleLysHisSerLysIleTrpPheGlySerAsnMetGlyAsnGlyThrValPheLeuGlyIleProGlyAspAsnLysGlnValValSerGluGlyPheTyrPheTyrMetLeuLysCysAlaGluAspAspThrAsnGluGluGlnThrThrPheThrAsnSerGlnThrSerThrGluAspProGlyAspSerThrProPheGluAspSerGluGluPheCysPheSerAlaGluAlaAsnSerPheAspGlyAspAspGluPheAspThrTyrAsnGluAspAspGluGluAspGluSerGluThrGlyTyrTrpIleThrCysCysProThrCysAspValAspIleAsnThrTrpValProPheTyrSerThrGluLeuAsnLysProAlaMetIleTyrCysSerHisGlyAspGlyHisTrpValHisAlaGlnCysMetAspLeuAlaGluArgThrLeuIleHisLeuSerAlaGlySerAsnLysTyrTyrCysAsnGluHisValGluIleAlaArgAlaLeuHisThrProGlnArgValLeuProLeuLysLysProProMetLysSerLeuArgLysLysGlySerGlyLysIleLeuThrProAlaLysLysSerPheLeuArgArgLeuPheAspTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714525"
    }
  ],
  "type": "nucleotide"
}