{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA5950082",
  "communityStandardTitle": [
    "NM_000448.3(RAG1):c.994C>T (p.Arg332Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=5050787",
        "active": true,
        "id": "COSM5050787"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=640010[alleleid]",
        "alleleId": 640010,
        "preferredName": "NM_000448.3(RAG1):c.994C>T (p.Arg332Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/649706",
        "RCV": [
          "RCV000804696",
          "RCV003472380"
        ],
        "variationId": 649706
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/11-36595848-C-T",
        "id": "11-36595848-C-T",
        "variant": "11:36595848 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36595848C>T?assembly=hg19",
        "id": "chr11:g.36595848C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr11:g.36574298C>T?assembly=hg38",
        "id": "chr11:g.36574298C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/568867325",
        "rs": 568867325
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36595848-C-T?dataset=gnomad_r2_1",
        "id": "11-36595848-C-T",
        "variant": "11:36595848 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36574298-C-T?dataset=gnomad_r3",
        "id": "11-36574298-C-T",
        "variant": "11:36574298 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/11-36574298-C-T?dataset=gnomad_r4",
        "id": "11-36574298-C-T",
        "variant": "11:36574298 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 36574298,
          "referenceAllele": "C",
          "start": 36574297
        }
      ],
      "hgvs": [
        "NC_000011.10:g.36574298C>T",
        "CM000673.2:g.36574298C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 36595848,
          "referenceAllele": "C",
          "start": 36595847
        }
      ],
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        "CM000673.1:g.36595848C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "T",
          "end": 36552424,
          "referenceAllele": "C",
          "start": 36552423
        }
      ],
      "hgvs": [
        "NC_000011.8:g.36552424C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 11286,
          "referenceAllele": "C",
          "start": 11285
        }
      ],
      "hgvs": [
        "NG_007528.1:g.11286C>T",
        "LRG_98:g.11286C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000636"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1290,
          "referenceAllele": "C",
          "start": 1289
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697713.1:c.994C>T"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000513411.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908925"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1174,
          "referenceAllele": "C",
          "start": 1173
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697714.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513412.1:p.Arg332Ter",
        "hgvsWellDefined": "ENSP00000513412.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908926"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1417,
          "referenceAllele": "C",
          "start": 1416
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000697715.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000513413.1:p.Arg332Ter",
        "hgvsWellDefined": "ENSP00000513413.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS908927"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.6:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Arg332Ter",
        "hgvsWellDefined": "ENSP00000299440.5:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS744676",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.994C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.994C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Arg332Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Arg332Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1106,
          "referenceAllele": "C",
          "start": 1105
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000299440.5:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000299440.5:p.Arg332Ter",
        "hgvsWellDefined": "ENSP00000299440.5:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254725"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1630,
          "referenceAllele": "C",
          "start": 1629
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "ENST00000534663.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434610.1:p.Arg332Ter",
        "hgvsWellDefined": "ENSP00000434610.1:p.Arg332_Asn931delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgAsnTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359238"
    },
    {
      "@id": "http://reg.genome.network/allele/PA915966174",
      "coordinates": [
        {
          "allele": "T",
          "end": 1118,
          "referenceAllele": "C",
          "start": 1117
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.2:c.994C>T",
        "LRG_98t1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.1:p.Arg332Ter",
        "hgvsWellDefined": "NP_000439.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006510"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1146,
          "referenceAllele": "C",
          "start": 1145
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.3:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Arg332Ter",
        "hgvsWellDefined": "XP_005253098.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS060133"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1260,
          "referenceAllele": "C",
          "start": 1259
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Arg332Ter",
        "hgvsWellDefined": "XP_011518552.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087419"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1358,
          "referenceAllele": "C",
          "start": 1357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520251.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518553.1:p.Arg332Ter",
        "hgvsWellDefined": "XP_011518553.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS087420"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1180,
          "referenceAllele": "C",
          "start": 1179
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_005253041.4:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_005253098.1:p.Arg332Ter",
        "hgvsWellDefined": "XP_005253098.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS533889"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1294,
          "referenceAllele": "C",
          "start": 1293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "XM_011520250.2:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011518552.1:p.Arg332Ter",
        "hgvsWellDefined": "XP_011518552.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS545657"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825177345",
      "coordinates": [
        {
          "allele": "T",
          "end": 1124,
          "referenceAllele": "C",
          "start": 1123
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_000448.3:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000439.2:p.Arg332Ter",
        "hgvsWellDefined": "NP_000439.2:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674851",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299440.6:c.994C>T"
          },
          "RefSeq": {
            "hgvs": "NM_000448.3:c.994C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299440.5:p.Arg332Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000439.2:p.Arg332Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828706698",
      "coordinates": [
        {
          "allele": "T",
          "end": 1467,
          "referenceAllele": "C",
          "start": 1466
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377277.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364206.1:p.Arg332Ter",
        "hgvsWellDefined": "NP_001364206.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695063"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828707379",
      "coordinates": [
        {
          "allele": "T",
          "end": 1405,
          "referenceAllele": "C",
          "start": 1404
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377278.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364207.1:p.Arg332Ter",
        "hgvsWellDefined": "NP_001364207.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695064"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828708061",
      "coordinates": [
        {
          "allele": "T",
          "end": 1307,
          "referenceAllele": "C",
          "start": 1306
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377279.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364208.1:p.Arg332Ter",
        "hgvsWellDefined": "NP_001364208.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695065"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2573074374",
      "coordinates": [
        {
          "allele": "T",
          "end": 1193,
          "referenceAllele": "C",
          "start": 1192
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009831",
      "geneNCBI_id": 5896,
      "geneSymbol": "RAG1",
      "hgvs": [
        "NM_001377280.1:c.994C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001364209.1:p.Arg332Ter",
        "hgvsWellDefined": "NP_001364209.1:p.Arg332_Phe1043delinsTyrProCysPheProThrAspLeuGluSerProValLysSerPheLeuSerValLeuAsnSerLeuMetValLysCysProAlaLysGluCysAsnGluGluValSerLeuGluLysTyrAsnHisHisIleSerSerHisLysGluSerLysGluIlePheValHisIleAsnLysGlyGlyArgProArgGlnHisLeuLeuSerLeuThrArgArgAlaGlnLysHisArgLeuArgGluLeuLysLeuGlnValLysAlaPheAlaAspLysGluGluGlyGlyAspValLysSerValCysMetThrLeuPheLeuLeuAlaLeuArgAlaArgAsnGluHisArgGlnAlaAspGluLeuGluAlaIleMetGlnGlyLysGlySerGlyLeuGlnProAlaValCysLeuAlaIleArgValAsnThrPheLeuSerCysSerGlnTyrHisLysMetTyrArgThrValLysAlaIleThrGlyArgGlnIlePheGlnProLeuHisAlaLeuArgAsnAlaGluLysValLeuLeuProGlyTyrHisHisPheGluTrpGlnProProLeuLysAsnValSerSerSerThrAspValGlyIleIleAspGlyLeuSerGlyLeuSerSerSerValAspAspTyrProValAspThrIleAlaLysArgPheArgTyrAspSerAlaLeuValSerAlaLeuMetAspMetGluGluAspIleLeuGluGlyMetArgSerGlnAspLeuAspAspTyrLeuAsnGlyProPheThrValValValLysGluSerCysAspGlyMetGlyAspValSerGluLysHisGlySerGlyProValValProGluLysAlaValArgPheSerPheThrIleMetLysIleThrIleAlaHisSerSerGlnAsnValLysValPheGluGluAlaLysProAsnSerGluLeuCysCysLysProLeuCysLeuMetLeuAlaAspGluSerAspHisGluThrLeuThrAlaIleLeuSerProLeuIleAlaGluArgGluAlaMetLysSerSerGluLeuMetLeuGluLeuGlyGlyIleLeuArgThrPheLysPheIlePheArgGlyThrGlyTyrAspGluLysLeuValArgGluValGluGlyLeuGluAlaSerGlySerValTyrIleCysThrLeuCysAspAlaThrArgLeuGluAlaSerGlnAsnLeuValPheHisSerIleThrArgSerHisAlaGluAsnLeuGluArgTyrGluValTrpArgSerAsnProTyrHisGluSerValGluGluLeuArgAspArgValLysGlyValSerAlaLysProPheIleGluThrValProSerIleAspAlaLeuHisCysAspIleGlyAsnAlaAlaGluPheTyrLysIlePheGlnLeuGluIleGlyGluValTyrLysAsnProAsnAlaSerLysGluGluArgLysArgTrpGlnAlaThrLeuAspLysHisLeuArgLysLysMetAsnLeuLysProIleMetArgMetAsnGlyAsnPheAlaArgLysLeuMetThrLysGluThrValAspAlaValCysGluLeuIleProSerGluGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS695066"
    }
  ],
  "type": "nucleotide"
}