{
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  "@id": "http://reg.genome.network/allele/CA116328",
  "communityStandardTitle": [
    "NM_033159.4(HYAL1):c.751_787delinsTTCCGTGTGGCCCG (p.Val251PhefsTer20)"
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        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3531",
        "RCV": [
          "RCV000003709"
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      }
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          "allele": "TTCCGTGTGGCCCG",
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          "referenceAllele": "GTGCTGGAGGGCACAGGGAAGTCACAGATGTATGTGC",
          "start": 883
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153282.3:c.751_787delinsTTCCGTGTGGCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_695014.1:p.Val251PhefsTer20",
        "hgvsWellDefined": "NP_695014.1:p.[Val251_His264delinsPhe;Glu268_Phe270del;Val272_Ala276delinsThrProCysGlyArg;Asp278Ile;Asn280_Asp292delinsCysGlyCysGlyCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700337"
    },
    {
      "coordinates": [
        {
          "allele": "TTCCGTGTGGCCCG",
          "end": 563,
          "referenceAllele": "GTGCTGGAGGGCACAGGGAAGTCACAGATGTATGTGC",
          "start": 526
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153283.3:c.205_241delinsTTCCGTGTGGCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_695015.1:p.Val69PhefsTer20",
        "hgvsWellDefined": "NP_695015.1:p.[Val69_His82delinsPhe;Glu86_Phe88del;Val90_Ala94delinsThrProCysGlyArg;Asp96Ile;Asn98_Asp110delinsCysGlyCysGlyCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS700338"
    },
    {
      "coordinates": [
        {
          "allele": "TTCCGTGTGGCCCG",
          "end": 145,
          "referenceAllele": "GTGCTGGAGGGCACAGGGAAGTCACAGATGTATGTGC",
          "start": 109,
          "startIntronDirection": "-",
          "startIntronOffset": 1
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153285.3:c.-26-1_10delinsTTCCGTGTGGCCCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS700339"
    },
    {
      "coordinates": [
        {
          "allele": "TTCCGTGTGGCCCG",
          "end": 1405,
          "referenceAllele": "GTGCTGGAGGGCACAGGGAAGTCACAGATGTATGTGC",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NR_047690.2:n.1369_1405delinsTTCCGTGTGGCCCG"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702541"
    },
    {
      "coordinates": [
        {
          "allele": "TTCCGTGTGGCCCG",
          "end": 1214,
          "referenceAllele": "GTGCTGGAGGGCACAGGGAAGTCACAGATGTATGTGC",
          "start": 1177
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005320",
      "geneNCBI_id": 3373,
      "geneSymbol": "HYAL1",
      "hgvs": [
        "NM_153281.2:c.751_787delinsTTCCGTGTGGCCCG"
      ],
      "proteinEffect": {
        "hgvs": "NP_695013.1:p.Val251PhefsTer20",
        "hgvsWellDefined": "NP_695013.1:p.[Val251_His264delinsPhe;Glu268_Phe270del;Val272_Ala276delinsThrProCysGlyArg;Asp278Ile;Asn280_Asp292delinsCysGlyCysGlyCysTrp]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729464"
    }
  ],
  "type": "nucleotide"
}