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  "@id": "http://reg.genome.network/allele/CA10576209",
  "communityStandardTitle": [
    "NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227836[alleleid]",
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        "preferredName": "NM_177433.3(MAGED2):c.1038C>G (p.Tyr346Ter)"
      }
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/226031",
        "RCV": [
          "RCV000211517"
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        "variationId": 226031
      }
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    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.54838637C>G?assembly=hg19",
        "id": "chrX:g.54838637C>G"
      }
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    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chrX:g.54812204C>G?assembly=hg38",
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    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878854404",
        "rs": 878854404
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      "chromosome": "X",
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      "referenceGenome": "GRCh38",
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    },
    {
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        {
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      "referenceGenome": "GRCh37",
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    },
    {
      "chromosome": "X",
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      "referenceGenome": "NCBI36",
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS002577"
    }
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      "referenceSequence": "http://reg.genome.network/refseq/RS751547",
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        "maneStatus": "MANE Select",
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      "referenceSequence": "http://reg.genome.network/refseq/RS248142"
    },
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      "coordinates": [
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        "hgvsWellDefined": "ENSP00000336962.4:p.Tyr328_Lys588delinsIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262370"
    },
    {
      "coordinates": [
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        "hgvsWellDefined": "ENSP00000364193.2:p.Tyr346_Lys606delinsIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270538"
    },
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000364198.1:p.Tyr346_Lys606delinsIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270541"
    },
    {
      "coordinates": [
        {
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          "referenceAllele": "C",
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        }
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000364200.1:p.Tyr261_Lys521delinsIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270542"
    },
    {
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        {
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        }
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      "proteinEffect": {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS270548"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS277166"
    },
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      "coordinates": [
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    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS326039"
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      "referenceSequence": "http://reg.genome.network/refseq/RS406837"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS033294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645464864",
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      "proteinEffect": {
        "hgvs": "NP_803182.1:p.Tyr346Ter",
        "hgvsWellDefined": "NP_803182.1:p.Tyr346_Lys606delinsIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS043342"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916064308",
      "coordinates": [
        {
          "allele": "G",
          "end": 1231,
          "referenceAllele": "C",
          "start": 1230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_201222.2:c.1038C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_957516.1:p.Tyr346Ter",
        "hgvsWellDefined": "NP_957516.1:p.Tyr346_Lys606delinsIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044975"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645464864",
      "coordinates": [
        {
          "allele": "G",
          "end": 1125,
          "referenceAllele": "C",
          "start": 1124
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_177433.3:c.1038C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_803182.1:p.Tyr346Ter",
        "hgvsWellDefined": "NP_803182.1:p.Tyr346_Lys606delinsIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS672807",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000375068.6:c.1038C>G"
          },
          "RefSeq": {
            "hgvs": "NM_177433.3:c.1038C>G"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000364209.1:p.Tyr346Ter"
          },
          "RefSeq": {
            "hgvs": "NP_803182.1:p.Tyr346Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829757035",
      "coordinates": [
        {
          "allele": "G",
          "end": 1155,
          "referenceAllele": "C",
          "start": 1154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_014599.6:c.1038C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_055414.2:p.Tyr346Ter",
        "hgvsWellDefined": "NP_055414.2:p.Tyr346_Lys606delinsIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS697294"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916064308",
      "coordinates": [
        {
          "allele": "G",
          "end": 1210,
          "referenceAllele": "C",
          "start": 1209
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016353",
      "geneNCBI_id": 10916,
      "geneSymbol": "MAGED2",
      "hgvs": [
        "NM_201222.3:c.1038C>G"
      ],
      "proteinEffect": {
        "hgvs": "NP_957516.1:p.Tyr346Ter",
        "hgvsWellDefined": "NP_957516.1:p.Tyr346_Lys606delinsIleLeuLeuSerThrLeuGluProThrAspAlaGlyIleLeuGlyThrThrLysAspSerProLysLeuGlyLeuLeuMetValLeuLeuSerIleIlePheMetAsnGlyAsnArgSerSerGluAlaValIleTrpGluValLeuArgLysLeuGlyLeuArgProGlyIleHisHisSerLeuPheGlyAspValLysLysLeuIleThrAspGluPheValLysGlnLysTyrLeuAspTyrAlaArgValProAsnSerAsnProProGluTyrGluPhePheTrpGlyLeuArgSerTyrTyrGluThrSerLysMetLysValLeuLysPheAlaCysLysValGlnLysLysAspProLysGluTrpAlaAlaGlnTyrArgGluAlaMetGluAlaAspLeuLysAlaAlaAlaGluAlaAlaAlaGluAlaLysAlaArgAlaGluIleArgAlaArgMetGlyIleGlyLeuGlySerGluAsnAlaAlaGlyProCysAsnTrpAspGluAlaAspIleGlyProTrpAlaLysAlaArgIleGlnAlaGlyAlaGluAlaLysAlaLysAlaGlnGluSerGlySerAlaSerThrGlyAlaSerThrSerThrAsnAsnSerAlaSerAlaSerAlaSerThrSerGlyGlyPheSerAlaGlyAlaSerLeuThrAlaThrLeuThrPheGlyLeuPheAlaGlyLeuGlyGlyAlaGlyAlaSerThrSerGlySerSerGlyAlaCysGlyPheSerTyrLysTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS701518"
    }
  ],
  "type": "nucleotide"
}