{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA125148",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 110,
          "referenceAllele": "V",
          "start": 109
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004827",
      "geneNCBI_id": 3043,
      "geneSymbol": "HBB",
      "hgvs": [
        "NP_000509.1:p.Val110Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA125147",
          "hgvs": "NM_000518.5:c.328G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS147053"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=30381[alleleid]",
        "alleleId": 30381,
        "preferredName": "NM_000518.5(HBB):c.328G>A (p.Val110Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/15342",
        "RCV": [
          "RCV000016585",
          "RCV000169614",
          "RCV000641606",
          "RCV001553627",
          "RCV003476897"
        ],
        "variationId": 15342
      }
    ]
  },
  "type": "amino-acid"
}