{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1593801",
  "communityStandardTitle": [
    "NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)"
  ],
  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=392601[alleleid]",
        "alleleId": 392601,
        "preferredName": "NM_004304.5(ALK):c.3742C>T (p.Arg1248Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/404369",
        "RCV": [
          "RCV000657739",
          "RCV001086604",
          "RCV001021020"
        ],
        "variationId": 404369
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/2-29436851-G-A",
        "id": "2-29436851-G-A",
        "variant": "2:29436851 G / A"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29436851G>A?assembly=hg19",
        "id": "chr2:g.29436851G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr2:g.29213985G>A?assembly=hg38",
        "id": "chr2:g.29213985G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/145028315",
        "rs": 145028315
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29436851-G-A?dataset=gnomad_r2_1",
        "id": "2-29436851-G-A",
        "variant": "2:29436851 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29213985-G-A?dataset=gnomad_r3",
        "id": "2-29213985-G-A",
        "variant": "2:29213985 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/2-29213985-G-A?dataset=gnomad_r4",
        "id": "2-29213985-G-A",
        "variant": "2:29213985 G / A"
      }
    ]
  },
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    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29213985,
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          "start": 29213984
        }
      ],
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        "NC_000002.12:g.29213985G>A",
        "CM000664.2:g.29213985G>A"
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29436851,
          "referenceAllele": "G",
          "start": 29436850
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      ],
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        "NC_000002.11:g.29436851G>A",
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
        {
          "allele": "A",
          "end": 29290355,
          "referenceAllele": "G",
          "start": 29290354
        }
      ],
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 712582,
          "referenceAllele": "C",
          "start": 712581
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      ],
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        "LRG_488:g.712582C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001597"
    }
  ],
  "transcriptAlleles": [
    {
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        {
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      "geneSymbol": "ALK",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS752779",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
            "hgvs": "NM_004304.5:c.3742C>T"
          }
        },
        "protein": {
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            "hgvs": "ENSP00000373700.3:p.Arg1248Ter"
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          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg1248Ter"
          }
        }
      }
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      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000431873.6:c.969C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS755387"
    },
    {
      "coordinates": [
        {
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          "start": 618
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      ],
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      "geneSymbol": "ALK",
      "hgvs": [
        "ENST00000638605.1:n.619C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS764612"
    },
    {
      "coordinates": [
        {
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        }
      ],
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      "geneSymbol": "ALK",
      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000493203.1:p.Arg180_Pro552delinsAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS766572"
    },
    {
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        {
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          "end": 4649,
          "referenceAllele": "C",
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      ],
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS274136"
    },
    {
      "coordinates": [
        {
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          "end": 622,
          "referenceAllele": "C",
          "start": 621
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      ],
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      "hgvs": [
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        "hgvsWellDefined": "ENSP00000414027.2:p.Arg208_Pro580delinsAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS291823"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 3078,
          "referenceAllele": "C",
          "start": 3077
        }
      ],
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      "geneNCBI_id": 238,
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "ENSP00000482733.1:p.Arg871_Pro1243delinsAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS403797"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645489031",
      "coordinates": [
        {
          "allele": "T",
          "end": 4694,
          "referenceAllele": "C",
          "start": 4693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_004295.2:p.Arg1248_Pro1620delinsAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS029473"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036113",
      "coordinates": [
        {
          "allele": "T",
          "end": 942,
          "referenceAllele": "C",
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        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
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      "hgvs": [
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001340694.1:p.Arg180_Pro552delinsAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521941"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1064,
          "referenceAllele": "C",
          "start": 1063
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452778.1:c.895C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308546.1:p.Arg299Ter",
        "hgvsWellDefined": "XP_024308546.1:p.Arg299_Pro671delinsAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586168"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1800,
          "referenceAllele": "C",
          "start": 1799
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "XM_024452779.1:c.538C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_024308547.1:p.Arg180Ter",
        "hgvsWellDefined": "XP_024308547.1:p.Arg180_Pro552delinsAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS586169"
    },
    {
      "@id": "http://reg.genome.network/allele/PA645489031",
      "coordinates": [
        {
          "allele": "T",
          "end": 4669,
          "referenceAllele": "C",
          "start": 4668
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_004304.5:c.3742C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_004295.2:p.Arg1248Ter",
        "hgvsWellDefined": "NP_004295.2:p.Arg1248_Pro1620delinsAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS666419",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000389048.8:c.3742C>T"
          },
          "RefSeq": {
            "hgvs": "NM_004304.5:c.3742C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000373700.3:p.Arg1248Ter"
          },
          "RefSeq": {
            "hgvs": "NP_004295.2:p.Arg1248Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA916036113",
      "coordinates": [
        {
          "allele": "T",
          "end": 865,
          "referenceAllele": "C",
          "start": 864
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000427",
      "geneNCBI_id": 238,
      "geneSymbol": "ALK",
      "hgvs": [
        "NM_001353765.2:c.538C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001340694.1:p.Arg180Ter",
        "hgvsWellDefined": "NP_001340694.1:p.Arg180_Pro552delinsAspIleAlaAlaArgAsnCysLeuLeuThrCysProGlyProGlyArgValAlaLysIleGlyAspPheGlyMetAlaArgAspIleTyrArgAlaSerTyrTyrArgLysGlyGlyCysAlaMetLeuProValLysTrpMetProProGluAlaPheMetGluGlyIlePheThrSerLysThrAspThrTrpSerPheGlyValLeuLeuTrpGluIlePheSerLeuGlyTyrMetProTyrProSerLysSerAsnGlnGluValLeuGluPheValThrSerGlyGlyArgMetAspProProLysAsnCysProGlyProValTyrArgIleMetThrGlnCysTrpGlnHisGlnProGluAspArgProAsnPheAlaIleIleLeuGluArgIleGluTyrCysThrGlnAspProAspValIleAsnThrAlaLeuProIleGluTyrGlyProLeuValGluGluGluGluLysValProValArgProLysAspProGluGlyValProProLeuLeuValSerGlnGlnAlaLysArgGluGluGluArgSerProAlaAlaProProProLeuProThrThrSerSerGlyLysAlaAlaLysLysProThrAlaAlaGluIleSerValArgValProArgGlyProAlaValGluGlyGlyHisValAsnMetAlaPheSerGlnSerAsnProProSerGluLeuHisLysValHisGlySerArgAsnLysProThrSerLeuTrpAsnProThrTyrGlySerTrpPheThrGluLysProThrLysLysAsnAsnProIleAlaLysLysGluProHisAspArgGlyAsnLeuGlyLeuGluGlySerCysThrValProProAsnValAlaThrGlyArgLeuProGlyAlaSerLeuLeuLeuGluProSerSerLeuThrAlaAsnMetLysGluValProLeuPheArgLeuArgHisPheProCysGlyAsnValAsnTyrGlyTyrGlnGlnGlnGlyLeuProLeuGluAlaAlaThrAlaProGlyAlaGlyHisTyrGluAspThrIleLeuLysSerLysAsnSerMetAsnGlnProGlyProTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS720293"
    }
  ],
  "type": "nucleotide"
}