{
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  "communityStandardTitle": [
    "NM_001029883.3(PCARE):c.2988del (p.Thr997ArgfsTer?)"
  ],
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        "@id": "http://www.ncbi.nlm.nih.gov/snp/527236056",
        "rs": 527236056
      }
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        "@id": "http://gnomad.broadinstitute.org/variant/2-29071273-TG-T?dataset=gnomad_r4",
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      }
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          "allele": "",
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          "start": 29071275
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      "referenceSequence": "http://reg.genome.network/refseq/RS000050"
    },
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          "allele": "",
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          "start": 29294141
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      ],
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      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000026"
    },
    {
      "chromosome": "2",
      "coordinates": [
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          "allele": "",
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          "referenceAllele": "G",
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      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 7988,
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      ],
      "hgvs": [
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      "referenceSequence": "http://reg.genome.network/refseq/RS003652"
    }
  ],
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      "coordinates": [
        {
          "allele": "",
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        }
      ],
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      "geneNCBI_id": 388939,
      "geneSymbol": "PCARE",
      "hgvs": [
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS747181",
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        "maneStatus": "MANE Select",
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          },
          "RefSeq": {
            "hgvs": "NM_001029883.3:c.2988del"
          }
        },
        "protein": {
          "Ensembl": {
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          },
          "RefSeq": {
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        }
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    {
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      "gene": "http://reg.genome.network/gene/GN034383",
      "geneNCBI_id": 388939,
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      "hgvs": [
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS259444"
    },
    {
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      "geneNCBI_id": 388939,
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        "hgvs": "NP_001025054.1:p.Thr997ArgfsTer?",
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      },
      "referenceSequence": "http://reg.genome.network/refseq/RS008931"
    },
    {
      "coordinates": [
        {
          "allele": "",
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      "geneNCBI_id": 388939,
      "geneSymbol": "PCARE",
      "hgvs": [
        "XM_011532826.1:c.2988del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011531128.1:p.Thr997ArgfsTer?",
        "hgvsWellDefined": "XP_011531128.1:p.[Thr997_Arg998delinsArgGlyHis;His1000_Pro1003delinsGlyCysLeuLys;Ala1005_Leu1012delinsThrArgGlyAlaGlyAlaPhePro;Ser1014_Arg1017delinsLeuThrAspLeu;Ala1019Ser;Pro1021_Ser1022delinsAla;Ser1024_Val1026delinsLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS099852"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 185,
          "endIntronDirection": "+",
          "endIntronOffset": 2109,
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          "startIntronDirection": "+",
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        }
      ],
      "hgvs": [
        "XR_939901.1:n.185+2109del"
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      "referenceSequence": "http://reg.genome.network/refseq/RS134597"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 173,
          "endIntronDirection": "+",
          "endIntronOffset": 2121,
          "referenceAllele": "G",
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          "startIntronDirection": "+",
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      ],
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      "referenceSequence": "http://reg.genome.network/refseq/RS134598"
    },
    {
      "coordinates": [
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          "allele": "",
          "end": 3250,
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      "geneNCBI_id": 388939,
      "geneSymbol": "PCARE",
      "hgvs": [
        "NM_001029883.3:c.2988del"
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      "proteinEffect": {
        "hgvs": "NP_001025054.1:p.Thr997ArgfsTer?",
        "hgvsWellDefined": "NP_001025054.1:p.[Thr997_Arg998delinsArgGlyHis;His1000_Pro1003delinsGlyCysLeuLys;Ala1005_Leu1012delinsThrArgGlyAlaGlyAlaPhePro;Ser1014_Arg1017delinsLeuThrAspLeu;Ala1019Ser;Pro1021_Ser1022delinsAla;Ser1024_Val1026delinsLeuLeu]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663018",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000331664.6:c.2988del"
          },
          "RefSeq": {
            "hgvs": "NM_001029883.3:c.2988del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000332809.4:p.Thr997ArgfsTer?"
          },
          "RefSeq": {
            "hgvs": "NP_001025054.1:p.Thr997ArgfsTer?"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}