{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2827627725",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1369,
          "referenceAllele": "P",
          "start": 1368
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NP_001338729.1:p.Pro1369Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA394883560",
          "hgvs": "NM_001351800.1:c.4106C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS636141"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1478254[alleleid]",
        "alleleId": 1478254,
        "preferredName": "NM_001171.6(ABCC6):c.4448C>A (p.Pro1483Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1484716",
        "RCV": [
          "RCV002006007",
          "RCV002479665"
        ],
        "variationId": 1484716
      }
    ]
  },
  "type": "amino-acid"
}