{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA3068371376",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 144,
          "referenceAllele": "I",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN024627",
      "geneNCBI_id": 131566,
      "geneSymbol": "DCBLD2",
      "hgvs": [
        "NP_563615.3:p.Ile144Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2512701",
          "hgvs": "NM_080927.4:c.432A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180861"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=4414863[alleleid]",
        "alleleId": 4414863,
        "preferredName": "NM_080927.4(DCBLD2):c.432A>G (p.Ile144Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/4300612",
        "RCV": [
          "RCV005949324",
          "RCV005949333",
          "RCV005949334",
          "RCV005949335",
          "RCV005949331",
          "RCV005949337",
          "RCV005949326",
          "RCV005949327",
          "RCV005949328",
          "RCV005949329",
          "RCV005949330",
          "RCV005949332",
          "RCV005949336",
          "RCV005949325"
        ],
        "variationId": 4300612
      }
    ]
  },
  "type": "amino-acid"
}