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  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA386298316",
  "communityStandardTitle": [
    "NM_024312.5(GNPTAB):c.2404C>T (p.Gln802Ter)"
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  "externalRecords": {
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=839242[alleleid]",
        "alleleId": 839242,
        "preferredName": "NM_024312.5(GNPTAB):c.2404C>T (p.Gln802Ter)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/839203",
        "RCV": [
          "RCV001040909",
          "RCV003984853"
        ],
        "variationId": 839203
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.102158291G>A?assembly=hg19",
        "id": "chr12:g.102158291G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr12:g.101764513G>A?assembly=hg38",
        "id": "chr12:g.101764513G>A"
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    ],
    "dbSNP": [
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/1310955639",
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    ],
    "gnomAD_2": [
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        "@id": "http://gnomad.broadinstitute.org/variant/12-102158291-G-A?dataset=gnomad_r2_1",
        "id": "12-102158291-G-A",
        "variant": "12:102158291 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/12-101764513-G-A?dataset=gnomad_r4",
        "id": "12-101764513-G-A",
        "variant": "12:101764513 G / A"
      }
    ]
  },
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    {
      "chromosome": "12",
      "coordinates": [
        {
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          "start": 101764512
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      ],
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000060"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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          "end": 102158291,
          "referenceAllele": "G",
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000036"
    },
    {
      "chromosome": "12",
      "coordinates": [
        {
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          "end": 100682422,
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          "start": 100682421
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000012"
    },
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      "coordinates": [
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    }
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      "geneSymbol": "GNPTAB",
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      "proteinEffect": {
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      "referenceSequence": "http://reg.genome.network/refseq/RS744661",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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            "hgvs": "ENST00000299314.12:c.2404C>T"
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            "hgvs": "NM_024312.5:c.2404C>T"
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS254703"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139745825",
      "coordinates": [
        {
          "allele": "T",
          "end": 2596,
          "referenceAllele": "C",
          "start": 2595
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS037723"
    },
    {
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        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS073220"
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    {
      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS105685"
    },
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      "coordinates": [
        {
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      "referenceSequence": "http://reg.genome.network/refseq/RS539901"
    },
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      "referenceSequence": "http://reg.genome.network/refseq/RS553386"
    },
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      "coordinates": [
        {
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      "proteinEffect": {
        "hgvs": "XP_016875450.1:p.Gln730Ter",
        "hgvsWellDefined": "XP_016875450.1:p.Gln730_Val1184delinsGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571537"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2670,
          "referenceAllele": "C",
          "start": 2669
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "XM_017019962.2:c.1177C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016875451.1:p.Gln393Ter",
        "hgvsWellDefined": "XP_016875451.1:p.Gln393_Val847delinsGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS571538"
    },
    {
      "@id": "http://reg.genome.network/allele/PA1139745825",
      "coordinates": [
        {
          "allele": "T",
          "end": 2688,
          "referenceAllele": "C",
          "start": 2687
        }
      ],
      "gene": "http://reg.genome.network/gene/GN029670",
      "geneNCBI_id": 79158,
      "geneSymbol": "GNPTAB",
      "hgvs": [
        "NM_024312.5:c.2404C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_077288.2:p.Gln802Ter",
        "hgvsWellDefined": "NP_077288.2:p.Gln802_Val1256delinsGlyGlnAsnProProLeuAspLeuGluThrThrAlaArgPheArgValGluThrHisThrGlnLysThrIleGlyGlyAsnValThrLysGluLysProProSerLeuIleValProLeuGluSerGlnMetThrLysGluLysLysIleThrGlyLysGluLysGluAsnSerArgMetGluGluAsnAlaGluAsnHisIleGlyValThrGluValLeuLeuGlyArgLysLeuGlnHisTyrThrAspSerTyrLeuGlyPheLeuProTrpGluLysLysLysTyrPheGlnAspLeuLeuAspGluGluGluSerLeuLysThrGlnLeuAlaTyrPheThrAspSerLysAsnThrGlyArgGlnLeuLysAspThrPheAlaAspSerLeuArgTyrValAsnLysIleLeuAsnSerLysPheGlyPheThrSerArgLysValProAlaHisMetProHisMetIleAspArgIleValMetGlnGluLeuGlnAspMetPheProGluGluPheAspLysThrSerPheHisLysValArgHisSerGluAspMetGlnPheAlaPheSerTyrPheTyrTyrLeuMetSerAlaValGlnProLeuAsnIleSerGlnValPheAspGluValAspThrAspGlnSerGlyValLeuSerAspArgGluIleArgThrLeuAlaThrArgIleHisGluLeuProLeuSerLeuGlnAspLeuThrGlyLeuGluHisMetLeuIleAsnCysSerLysMetLeuProAlaAspIleThrGlnLeuAsnAsnIleProProThrGlnGluSerTyrTyrAspProAsnLeuProProValThrLysSerLeuValThrAsnCysLysProValThrAspLysIleHisLysAlaTyrLysAspLysAsnLysTyrArgPheGluIleMetGlyGluGluGluIleAlaPheLysMetIleArgThrAsnValSerHisValValGlyGlnLeuAspAspIleArgLysAsnProArgLysPheValCysLeuAsnAspAsnIleAspHisAsnHisLysAspAlaGlnThrValLysAlaValLeuArgAspPheTyrGluSerMetPheProIleProSerGlnPheGluLeuProArgGluTyrArgAsnArgPheLeuHisMetHisGluLeuGlnGluTrpArgAlaTyrArgAspLysLeuLysPheTrpThrHisCysValLeuAlaThrLeuIleMetPheThrIlePheSerPhePheAlaGluGlnLeuIleAlaLeuLysArgLysIlePheProArgArgArgIleHisLysGluAlaSerProAsnArgIleArgValTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670629",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000299314.12:c.2404C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024312.5:c.2404C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000299314.7:p.Gln802Ter"
          },
          "RefSeq": {
            "hgvs": "NP_077288.2:p.Gln802Ter"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}