{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580295399",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1139,
          "referenceAllele": "R",
          "start": 1138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN013681",
      "geneNCBI_id": 8642,
      "geneSymbol": "DCHS1",
      "hgvs": [
        "NP_003728.1:p.Arg1139Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA5860548",
          "hgvs": "NM_003737.3:c.3415C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169501"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1878000[alleleid]",
        "alleleId": 1878000,
        "preferredName": "NM_003737.4(DCHS1):c.3415C>T (p.Arg1139Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2136998",
        "RCV": [
          "RCV003062333"
        ],
        "variationId": 2136998
      }
    ]
  },
  "type": "amino-acid"
}