{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA094413",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 219,
          "referenceAllele": "A",
          "start": 218
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002488",
      "geneNCBI_id": 1482,
      "geneSymbol": "NKX2-5",
      "hgvs": [
        "NP_004378.1:p.Ala219Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA248607",
          "hgvs": "NM_004387.3:c.656C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170092"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=24050[alleleid]",
        "alleleId": 24050,
        "preferredName": "NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/9011",
        "RCV": [
          "RCV000009576",
          "RCV000525369",
          "RCV002362574",
          "RCV002482847"
        ],
        "variationId": 9011
      }
    ]
  },
  "type": "amino-acid"
}