{
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  "communityStandardTitle": [
    "NM_001281503.2(SLITRK1):c.1264del (p.Leu422PhefsTer28)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16617[alleleid]",
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        "preferredName": "NM_001281503.2(SLITRK1):c.1264del (p.Leu422fs)"
      }
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1578",
        "RCV": [
          "RCV000001645",
          "RCV000001644"
        ],
        "variationId": 1578
      }
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      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.84454379del?assembly=hg19",
        "id": "chr13:g.84454379del"
      }
    ],
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      {
        "@id": "http://myvariant.info/v1/variant/chr13:g.83880244del?assembly=hg38",
        "id": "chr13:g.83880244del"
      }
    ],
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      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/193302861",
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      }
    ]
  },
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      "coordinates": [
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          "allele": "",
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          "referenceAllele": "G",
          "start": 83880244
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 84454380,
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          "start": 84454379
        }
      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "",
          "end": 83352381,
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
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        }
      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS003273"
    }
  ],
  "transcriptAlleles": [
    {
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      "geneNCBI_id": 114798,
      "geneSymbol": "SLITRK1",
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS774341",
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        "maneStatus": "MANE Select",
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    {
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271456"
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    {
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        {
          "allele": "",
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      "geneNCBI_id": 114798,
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      "proteinEffect": {
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        "hgvsWellDefined": "NP_001268432.1:p.[Leu422_Leu428delinsPheTrpThrSerGlyGly;Met430_Asp436delinsThrTrpIleAlaIleThrTrp;Leu438_Ser439del;Glu441_Tyr451delinsCysProGlyArgAsnSerArgGlyCysLysThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS021662"
    },
    {
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "NP_443142.1:p.Leu422PhefsTer28",
        "hgvsWellDefined": "NP_443142.1:p.[Leu422_Leu428delinsPheTrpThrSerGlyGly;Met430_Asp436delinsThrTrpIleAlaIleThrTrp;Leu438_Ser439del;Glu441_Tyr451delinsCysProGlyArgAsnSerArgGlyCysLysThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS039901"
    },
    {
      "coordinates": [
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      "gene": "http://reg.genome.network/gene/GN020297",
      "geneNCBI_id": 114798,
      "geneSymbol": "SLITRK1",
      "hgvs": [
        "NM_001281503.2:c.1264del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001268432.1:p.Leu422PhefsTer28",
        "hgvsWellDefined": "NP_001268432.1:p.[Leu422_Leu428delinsPheTrpThrSerGlyGly;Met430_Asp436delinsThrTrpIleAlaIleThrTrp;Leu438_Ser439del;Glu441_Tyr451delinsCysProGlyArgAsnSerArgGlyCysLysThr]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS681648",
      "MANE": {
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        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_001281503.2:c.1264del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000501349.1:p.Leu422PhefsTer28"
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          "RefSeq": {
            "hgvs": "NP_001268432.1:p.Leu422PhefsTer28"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}