{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573066742",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "Q",
          "end": 1335,
          "referenceAllele": "L",
          "start": 1334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000057",
      "geneNCBI_id": 368,
      "geneSymbol": "ABCC6",
      "hgvs": [
        "NP_001162.5:p.Leu1335Gln"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA278625390",
          "hgvs": "NM_001171.6:c.4004T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS734747"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=426819[alleleid]",
        "alleleId": 426819,
        "preferredName": "NM_001171.6(ABCC6):c.4004T>A (p.Leu1335Gln)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/433343",
        "RCV": [
          "RCV000499074"
        ],
        "variationId": 433343
      }
    ]
  },
  "type": "amino-acid"
}