{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830328035",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 154,
          "referenceAllele": "M",
          "start": 153
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009005",
      "geneNCBI_id": 5308,
      "geneSymbol": "PITX2",
      "hgvs": [
        "NP_700476.1:p.Met154Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3045453",
          "hgvs": "NM_153427.3:c.460A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182902"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=550314[alleleid]",
        "alleleId": 550314,
        "preferredName": "NM_000325.6(PITX2):c.619A>G (p.Met207Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/559593",
        "RCV": [
          "RCV000754825",
          "RCV001145719",
          "RCV001145720",
          "RCV001148484",
          "RCV001148486",
          "RCV001148485",
          "RCV001148487",
          "RCV001145721",
          "RCV001361410",
          "RCV003411587"
        ],
        "variationId": 559593
      }
    ]
  },
  "type": "amino-acid"
}