{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA259995",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 131,
          "referenceAllele": "K",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025443",
      "geneNCBI_id": 83636,
      "geneSymbol": "C19orf12",
      "hgvs": [
        "NP_001242976.1:p.Lys131Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA259994",
          "hgvs": "NM_001256047.2:c.391A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS159534"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=40115[alleleid]",
        "alleleId": 40115,
        "preferredName": "NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/31158",
        "RCV": [
          "RCV000024154",
          "RCV000415210",
          "RCV000553096",
          "RCV000509226",
          "RCV001083182",
          "RCV000714889",
          "RCV001844017",
          "RCV001847623"
        ],
        "variationId": 31158
      }
    ]
  },
  "type": "amino-acid"
}