{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139724126",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 680,
          "referenceAllele": "P",
          "start": 679
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000469",
      "geneNCBI_id": 271,
      "geneSymbol": "AMPD2",
      "hgvs": [
        "NP_004028.4:p.Pro680Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA993269",
          "hgvs": "NM_004037.9:c.2039C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707985"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=941365[alleleid]",
        "alleleId": 941365,
        "preferredName": "NM_001368809.2(AMPD2):c.2039C>T (p.Pro680Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/961257",
        "RCV": [
          "RCV001234925",
          "RCV003346398",
          "RCV003346399",
          "RCV003318673"
        ],
        "variationId": 961257
      }
    ]
  },
  "type": "amino-acid"
}