{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA103573",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 248,
          "referenceAllele": "G",
          "start": 247
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011603",
      "geneNCBI_id": 9496,
      "geneSymbol": "TBX4",
      "hgvs": [
        "NP_060958.2:p.Gly248Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA340707",
          "hgvs": "NM_018488.2:c.743G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176316"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=22894[alleleid]",
        "alleleId": 22894,
        "preferredName": "NM_001321120.2(TBX4):c.743G>T (p.Gly248Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/7855",
        "RCV": [
          "RCV000008305"
        ],
        "variationId": 7855
      }
    ]
  },
  "type": "amino-acid"
}