{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139690808",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 331,
          "referenceAllele": "A",
          "start": 330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002197",
      "geneNCBI_id": 1277,
      "geneSymbol": "COL1A1",
      "hgvs": [
        "NP_000079.2:p.Ala331Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA291547129",
          "hgvs": "NM_000088.4:c.992C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146640"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=858287[alleleid]",
        "alleleId": 858287,
        "preferredName": "NM_000088.4(COL1A1):c.992C>T (p.Ala331Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/870110",
        "RCV": [
          "RCV001260274",
          "RCV001759859",
          "RCV003631174"
        ],
        "variationId": 870110
      }
    ]
  },
  "type": "amino-acid"
}