{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580331853",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 256,
          "referenceAllele": "R",
          "start": 255
        }
      ],
      "gene": "http://reg.genome.network/gene/GN005099",
      "geneNCBI_id": 3198,
      "geneSymbol": "HOXA1",
      "hgvs": [
        "NP_005513.2:p.Arg256Cys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA367067804",
          "hgvs": "NM_005522.5:c.766C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707802"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2297542[alleleid]",
        "alleleId": 2297542,
        "preferredName": "NM_005522.5(HOXA1):c.766C>T (p.Arg256Cys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2306898",
        "RCV": [
          "RCV002879260"
        ],
        "variationId": 2306898
      }
    ]
  },
  "type": "amino-acid"
}