{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580528293",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 139,
          "referenceAllele": "A",
          "start": 138
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030362",
      "geneNCBI_id": 157869,
      "geneSymbol": "SBSPON",
      "hgvs": [
        "NP_694957.3:p.Ala139Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA4782412",
          "hgvs": "NM_153225.4:c.415G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182805"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2203558[alleleid]",
        "alleleId": 2203558,
        "preferredName": "NM_153225.4(SBSPON):c.415G>A (p.Ala139Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2206278",
        "RCV": [
          "RCV004072758"
        ],
        "variationId": 2206278
      }
    ]
  },
  "type": "amino-acid"
}