{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA110527",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 38,
          "referenceAllele": "G",
          "start": 37
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011179",
      "geneNCBI_id": 6647,
      "geneSymbol": "SOD1",
      "hgvs": [
        "NP_000445.1:p.Gly38Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA257311",
          "hgvs": "NM_000454.5:c.112G>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA410036643",
          "hgvs": "NM_000454.5:c.112G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146997"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29791[alleleid]",
        "alleleId": 29791,
        "preferredName": "NM_000454.5(SOD1):c.112G>A (p.Gly38Arg)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=540470[alleleid]",
        "alleleId": 540470,
        "preferredName": "NM_000454.5(SOD1):c.112G>C (p.Gly38Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14752",
        "RCV": [
          "RCV000015874",
          "RCV000492487",
          "RCV003480031"
        ],
        "variationId": 14752
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/549678",
        "RCV": [
          "RCV000664220"
        ],
        "variationId": 549678
      }
    ]
  },
  "type": "amino-acid"
}