{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826507167",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 173,
          "referenceAllele": "M",
          "start": 172
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015454",
      "geneNCBI_id": 8036,
      "geneSymbol": "SHOC2",
      "hgvs": [
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      ],
      "matchingRegisteredTranscripts": [
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          "hgvs": "NM_001269039.3:c.519G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA378385803",
          "hgvs": "NM_001269039.3:c.519G>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA378385809",
          "hgvs": "NM_001269039.3:c.519G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS160674"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=179142[alleleid]",
        "alleleId": 179142,
        "preferredName": "NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=536787[alleleid]",
        "alleleId": 536787,
        "preferredName": "NM_007373.4(SHOC2):c.519G>T (p.Met173Ile)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3013156[alleleid]",
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        "preferredName": "NM_007373.4(SHOC2):c.519G>C (p.Met173Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/181528",
        "RCV": [
          "RCV000169685",
          "RCV000586119",
          "RCV000523270",
          "RCV001376015",
          "RCV001030821",
          "RCV002336369",
          "RCV003156077"
        ],
        "variationId": 181528
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/546129",
        "RCV": [
          "RCV000657957"
        ],
        "variationId": 546129
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2850800",
        "RCV": [
          "RCV003655985"
        ],
        "variationId": 2850800
      }
    ]
  },
  "type": "amino-acid"
}