{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573075091",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "R",
          "end": 139,
          "referenceAllele": "H",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003401",
      "geneNCBI_id": 2052,
      "geneSymbol": "EPHX1",
      "hgvs": [
        "NP_001365359.1:p.His139Arg"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA126708",
          "hgvs": "NM_001378430.1:c.416A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS735996"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=31644[alleleid]",
        "alleleId": 31644,
        "preferredName": "NM_001136018.4(EPHX1):c.416A>G (p.His139Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/16605",
        "RCV": [
          "RCV000018079",
          "RCV001723577"
        ],
        "variationId": 16605
      }
    ]
  },
  "type": "amino-acid"
}