{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580473945",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 144,
          "referenceAllele": "P",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015487",
      "geneNCBI_id": 81542,
      "geneSymbol": "TMX1",
      "hgvs": [
        "NP_110382.3:p.Pro144Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA389756796",
          "hgvs": "NM_030755.5:c.430C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS178918"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2222510[alleleid]",
        "alleleId": 2222510,
        "preferredName": "NM_030755.5(TMX1):c.430C>G (p.Pro144Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2240856",
        "RCV": [
          "RCV004099352"
        ],
        "variationId": 2240856
      }
    ]
  },
  "type": "amino-acid"
}