{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580558772",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 1063,
          "referenceAllele": "G",
          "start": 1062
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024797",
      "geneNCBI_id": 286077,
      "geneSymbol": "FAM83H",
      "hgvs": [
        "NP_940890.4:p.Gly1063Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4917034",
          "hgvs": "NM_198488.5:c.3187G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707621"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2250896[alleleid]",
        "alleleId": 2250896,
        "preferredName": "NM_198488.5(FAM83H):c.3187G>A (p.Gly1063Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2270570",
        "RCV": [
          "RCV002809564"
        ],
        "variationId": 2270570
      }
    ]
  },
  "type": "amino-acid"
}