{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA16616357",
  "communityStandardTitle": [
    "NM_000268.4(NF2):c.432C>G (p.Tyr144Ter)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=23902",
        "active": true,
        "id": "COSM23902"
      }
    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=403903[alleleid]",
        "alleleId": 403903,
        "preferredName": "NM_000268.4(NF2):c.432C>G (p.Tyr144Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/412201",
        "RCV": [
          "RCV000462897"
        ],
        "variationId": 412201
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.30038259C>G?assembly=hg19",
        "id": "chr22:g.30038259C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr22:g.29642270C>G?assembly=hg38",
        "id": "chr22:g.29642270C>G"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1060503667",
        "rs": 1060503667
      }
    ]
  },
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    {
      "chromosome": "22",
      "coordinates": [
        {
          "allele": "G",
          "end": 29642270,
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      ],
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        "CM000684.2:g.29642270C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000070"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
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          "start": 30038258
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000046"
    },
    {
      "chromosome": "22",
      "coordinates": [
        {
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      ],
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      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000022"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 43715,
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      "hgvs": [
        "NG_009057.1:g.43715C>G",
        "LRG_511:g.43715C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001399"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
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      ],
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      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
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      ],
      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS913979"
    },
    {
      "coordinates": [
        {
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS914446"
    },
    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS747756",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
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            "hgvs": "ENST00000338641.10:c.432C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000268.4:c.432C>G"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000344666.5:p.Tyr144Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000259.1:p.Tyr144Ter"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 828,
          "referenceAllele": "C",
          "start": 827
        }
      ],
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      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773391"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 979,
          "referenceAllele": "C",
          "start": 978
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      ],
      "gene": "http://reg.genome.network/gene/GN007773",
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      "hgvs": [
        "ENST00000672805.1:c.*314C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000500295.1:n.*314C>G"
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      "referenceSequence": "http://reg.genome.network/refseq/RS773495"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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      ],
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      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000672896.1:c.432C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000500117.1:p.Tyr144_Ile590delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773532"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 345,
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          "start": 344
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000673312.1:c.345C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000500186.1:p.Tyr115_Gly174delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgMetGlnLeuSerIleIleAspSerGlnArgGlyGlyTrpSerArgValTyrSerAlaTrpGlyIleGluLeuPheAlaValAlaArgGlyGlyTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS773646"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 455,
          "referenceAllele": "C",
          "start": 454
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      ],
      "gene": "http://reg.genome.network/gene/GN007773",
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      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000334961.11:c.183C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000335652.7:p.Tyr61_Ile507delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 873,
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      ],
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000344666.4:p.Tyr144_Leu595delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247223"
    },
    {
      "coordinates": [
        {
          "allele": "G",
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          "start": 434
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      ],
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000340626.4:p.Tyr61Ter",
        "hgvsWellDefined": "ENSP00000340626.4:p.Tyr61_Ile507delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247362"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
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      "geneNCBI_id": 4771,
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      "hgvs": [
        "ENST00000361166.8:c.432C>G"
      ],
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        "hgvsWellDefined": "ENSP00000354529.4:p.Tyr144_Ile590delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247287"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 691,
          "referenceAllele": "C",
          "start": 690
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361452.8:c.309C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000354897.4:p.Tyr103_Ile549delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247179"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 306,
          "referenceAllele": "C",
          "start": 305
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000361676.8:c.306C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000355183.4:p.Tyr102_Ile548delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247194"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 432,
          "referenceAllele": "C",
          "start": 431
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
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      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000380891.3:p.Tyr144_Ile590delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247214"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 843,
          "referenceAllele": "C",
          "start": 842
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
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      "hgvs": [
        "ENST00000403435.5:c.432C>G"
      ],
      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000384029.1:p.Tyr144_Ile561delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247166"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000403999.7:c.432C>G"
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000384797.3:p.Tyr144_Ile590delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247113"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000413209.6:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000409921.2:p.Tyr144Ter",
        "hgvsWellDefined": "ENSP00000409921.2:p.Tyr144_Leu165delinsAlaValGlnAlaLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247276"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 233,
          "referenceAllele": "C",
          "start": 232
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "ENST00000432151.5:c.183C>G"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000395885.1:p.Tyr61Ter",
        "hgvsWellDefined": "ENSP00000395885.1:p.Tyr61_Ser220delinsAlaValGlnAlaLysAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnGlyGlnArgGlyArgSerAlaGluAlaGlyProAlaGlySerThrArgGlyGlyAlaLysSerGlnAlaGluAlaProGlyAspCysHisGlnAlaHisValProAlaHisGluProAsnSerSerThrValAlaSerTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291965"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825134926",
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_000268.3:c.432C>G",
        "LRG_511t1:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000259.1:p.Tyr144Ter",
        "hgvsWellDefined": "NP_000259.1:p.Tyr144_Leu595delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006330"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645386552",
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_016418.5:c.432C>G",
        "LRG_511t2:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_057502.2:p.Tyr144Ter",
        "hgvsWellDefined": "NP_057502.2:p.Tyr144_Ile590delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS034679"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830391716",
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181825.2:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861546.1:p.Tyr144Ter",
        "hgvsWellDefined": "NP_861546.1:p.Tyr144_Ile590delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043888"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830393633",
      "coordinates": [
        {
          "allele": "G",
          "end": 749,
          "referenceAllele": "C",
          "start": 748
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181828.2:c.306C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861966.1:p.Tyr102Ter",
        "hgvsWellDefined": "NP_861966.1:p.Tyr102_Ile548delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043889"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830395846",
      "coordinates": [
        {
          "allele": "G",
          "end": 752,
          "referenceAllele": "C",
          "start": 751
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181829.2:c.309C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861967.1:p.Tyr103Ter",
        "hgvsWellDefined": "NP_861967.1:p.Tyr103_Ile549delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043890"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830398052",
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181830.2:c.183C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861968.1:p.Tyr61Ter",
        "hgvsWellDefined": "NP_861968.1:p.Tyr61_Ile507delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043891"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916078694",
      "coordinates": [
        {
          "allele": "G",
          "end": 626,
          "referenceAllele": "C",
          "start": 625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181831.2:c.183C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861969.1:p.Tyr61Ter",
        "hgvsWellDefined": "NP_861969.1:p.Tyr61_Ile507delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043892"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830403234",
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181832.2:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861970.1:p.Tyr144Ter",
        "hgvsWellDefined": "NP_861970.1:p.Tyr144_Ile590delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043893"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830404584",
      "coordinates": [
        {
          "allele": "G",
          "end": 875,
          "referenceAllele": "C",
          "start": 874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181833.2:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861971.1:p.Tyr144Ter",
        "hgvsWellDefined": "NP_861971.1:p.Tyr144_Leu165delinsAlaValGlnAlaLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043894"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 991,
          "referenceAllele": "C",
          "start": 990
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NR_156186.1:n.991C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531892"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 438,
          "referenceAllele": "C",
          "start": 437
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "XM_017028809.2:c.318C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884298.1:p.Tyr106Ter",
        "hgvsWellDefined": "XP_016884298.1:p.Tyr106_Leu557delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578468"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 434,
          "referenceAllele": "C",
          "start": 433
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "XM_017028810.1:c.318C>G"
      ],
      "proteinEffect": {
        "hgvs": "XP_016884299.1:p.Tyr106Ter",
        "hgvsWellDefined": "XP_016884299.1:p.Tyr106_Ile552delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS578469"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825134926",
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_000268.4:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_000259.1:p.Tyr144Ter",
        "hgvsWellDefined": "NP_000259.1:p.Tyr144_Leu595delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674769",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000338641.10:c.432C>G"
          },
          "RefSeq": {
            "hgvs": "NM_000268.4:c.432C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000344666.5:p.Tyr144Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000259.1:p.Tyr144Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830391716",
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181825.3:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861546.1:p.Tyr144Ter",
        "hgvsWellDefined": "NP_861546.1:p.Tyr144_Ile590delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701021"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830393633",
      "coordinates": [
        {
          "allele": "G",
          "end": 672,
          "referenceAllele": "C",
          "start": 671
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181828.3:c.306C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861966.1:p.Tyr102Ter",
        "hgvsWellDefined": "NP_861966.1:p.Tyr102_Ile548delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701022"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830395846",
      "coordinates": [
        {
          "allele": "G",
          "end": 675,
          "referenceAllele": "C",
          "start": 674
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181829.3:c.309C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861967.1:p.Tyr103Ter",
        "hgvsWellDefined": "NP_861967.1:p.Tyr103_Ile549delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701023"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830398052",
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181830.3:c.183C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861968.1:p.Tyr61Ter",
        "hgvsWellDefined": "NP_861968.1:p.Tyr61_Ile507delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701024"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916078694",
      "coordinates": [
        {
          "allele": "G",
          "end": 549,
          "referenceAllele": "C",
          "start": 548
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181831.3:c.183C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861969.1:p.Tyr61Ter",
        "hgvsWellDefined": "NP_861969.1:p.Tyr61_Ile507delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701025"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830403234",
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181832.3:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861970.1:p.Tyr144Ter",
        "hgvsWellDefined": "NP_861970.1:p.Tyr144_Ile590delinsAlaValGlnAlaLysTyrGlyAspTyrAspProSerValHisLysArgGlyPheLeuAlaGlnGluGluLeuLeuProLysArgValIleAsnLeuTyrGlnMetThrProGluMetTrpGluGluArgIleThrAlaTrpTyrAlaGluHisArgGlyArgAlaArgAspGluAlaGluMetGluTyrLeuLysIleAlaGlnAspLeuGluMetTyrGlyValAsnTyrPheAlaIleArgAsnLysLysGlyThrGluLeuLeuLeuGlyValAspAlaLeuGlyLeuHisIleTyrAspProGluAsnArgLeuThrProLysIleSerPheProTrpAsnGluIleArgAsnIleSerTyrSerAspLysGluPheThrIleLysProLeuAspLysLysIleAspValPheLysPheAsnSerSerLysLeuArgValAsnLysLeuIleLeuGlnLeuCysIleGlyAsnHisAspLeuPheMetArgArgArgLysAlaAspSerLeuGluValGlnGlnMetLysAlaGlnAlaArgGluGluLysAlaArgLysGlnMetGluArgGlnArgLeuAlaArgGluLysGlnMetArgGluGluAlaGluArgThrArgAspGluLeuGluArgArgLeuLeuGlnMetLysGluGluAlaThrMetAlaAsnGluAlaLeuMetArgSerGluGluThrAlaAspLeuLeuAlaGluLysAlaGlnIleThrGluGluGluAlaLysLeuLeuAlaGlnLysAlaAlaGluAlaGluGlnGluMetGlnArgIleLysAlaThrAlaIleArgThrGluGluGluLysArgLeuMetGluGlnLysValLeuGluAlaGluValLeuAlaLeuLysMetAlaGluGluSerGluArgArgAlaLysGluAlaAspGlnLeuLysGlnAspLeuGlnGluAlaArgGluAlaGluArgArgAlaLysGlnLysLeuLeuGluIleAlaThrLysProThrTyrProProMetAsnProIleProAlaProLeuProProAspIleProSerPheAsnLeuIleGlyAspSerLeuSerPheAspPheLysAspThrAspMetLysArgLeuSerMetGluIleGluLysGluLysValGluTyrMetGluLysSerLysHisLeuGlnGluGlnLeuAsnGluLeuLysThrGluIleGluAlaLeuLysLeuLysGluArgGluThrAlaLeuAspIleLeuHisAsnGluAsnSerAspArgGlyGlySerSerLysHisAsnThrIleLysLysProGlnAlaGlnGlyArgArgProIleCysIleTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701026"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 914,
          "referenceAllele": "C",
          "start": 913
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NR_156186.2:n.914C>G"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704957"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830404584",
      "coordinates": [
        {
          "allele": "G",
          "end": 798,
          "referenceAllele": "C",
          "start": 797
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007773",
      "geneNCBI_id": 4771,
      "geneSymbol": "NF2",
      "hgvs": [
        "NM_181833.3:c.432C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_861971.1:p.Tyr144Ter",
        "hgvsWellDefined": "NP_861971.1:p.Tyr144_Leu165delinsAlaValGlnAlaLysLeuThrLeuGlnSerAlaLysSerArgValAlaPhePheGluGluLeuTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729746"
    }
  ],
  "type": "nucleotide"
}