{
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  "communityStandardTitle": [
    "NM_000180.4(GUCY2D):c.1773del (p.Asn591LysfsTer?)"
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        "RCV": [
          "RCV000180468",
          "RCV001526721",
          "RCV001852248"
        ],
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      }
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      }
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        "id": "chr17:g.8012167del"
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    ],
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/794727952",
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        "id": "17-7915484-AC-A",
        "variant": "17:7915484 AC / A"
      }
    ],
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      {
        "@id": "http://gnomad.broadinstitute.org/variant/17-8012166-AC-A?dataset=gnomad_r4",
        "id": "17-8012166-AC-A",
        "variant": "17:8012166 AC / A"
      }
    ]
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      "chromosome": "17",
      "coordinates": [
        {
          "allele": "",
          "end": 8012167,
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          "start": 8012166
        }
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      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
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      "coordinates": [
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
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        {
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      "referenceGenome": "NCBI36",
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    },
    {
      "coordinates": [
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    }
  ],
  "transcriptAlleles": [
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      "coordinates": [
        {
          "allele": "",
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          "start": 1901
        }
      ],
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      "geneNCBI_id": 3000,
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      "hgvs": [
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      "proteinEffect": {
        "hgvs": "ENSP00000254854.4:p.Asn591LysfsTer?",
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      "referenceSequence": "http://reg.genome.network/refseq/RS741685",
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        "maneStatus": "MANE Select",
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            "hgvs": "NM_000180.4:c.1773del"
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        },
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            "hgvs": "ENSP00000254854.4:p.Asn591LysfsTer?"
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            "hgvs": "NP_000171.1:p.Asn591LysfsTer?"
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    },
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      "coordinates": [
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          "allele": "",
          "end": 1923,
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          "start": 1922
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    },
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006242"
    },
    {
      "coordinates": [
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      "geneSymbol": "GUCY2D",
      "hgvs": [
        "XM_011523816.1:c.1773del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011522118.1:p.Asn591LysfsTer?",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS090949"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1902,
          "referenceAllele": "C",
          "start": 1901
        }
      ],
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      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NM_000180.4:c.1773del"
      ],
      "proteinEffect": {
        "hgvs": "NP_000171.1:p.Asn591LysfsTer?",
        "hgvsWellDefined": "NP_000171.1:p.[Asn591_Leu596delinsLysTrpProSerThrTrp;Leu598del;Leu600_Arg602delinsSerTrpLeu;Ala604del;Gly606_Pro607delinsGlnLys;Ala609_Glu612delinsLeuArgProSer;Asn614_Val618delinsArgAlaThrTrpLeuTrp;Glu620_His621delinsGlnSer]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674739",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
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          "RefSeq": {
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          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000254854.4:p.Asn591LysfsTer?"
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          "RefSeq": {
            "hgvs": "NP_000171.1:p.Asn591LysfsTer?"
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        }
      }
    }
  ],
  "type": "nucleotide"
}