{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA099862",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 380,
          "referenceAllele": "D",
          "start": 379
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007610",
      "geneNCBI_id": 4653,
      "geneSymbol": "MYOC",
      "hgvs": [
        "NP_000252.1:p.Asp380His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA119186",
          "hgvs": "NM_000261.2:c.1138G>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146808"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23000[alleleid]",
        "alleleId": 23000,
        "preferredName": "NM_000261.2(MYOC):c.1138G>C (p.Asp380His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7961",
        "RCV": [
          "RCV000008425",
          "RCV001843353"
        ],
        "variationId": 7961
      }
    ]
  },
  "type": "amino-acid"
}