{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139717864",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "K",
          "end": 530,
          "referenceAllele": "E",
          "start": 529
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "NP_003117.2:p.Glu530Lys"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA1183711",
          "hgvs": "NM_003126.2:c.1588G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=862488[alleleid]",
        "alleleId": 862488,
        "preferredName": "NM_003126.4(SPTA1):c.1588G>A (p.Glu530Lys)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/876787",
        "RCV": [
          "RCV001101976",
          "RCV001101975",
          "RCV001101974"
        ],
        "variationId": 876787
      }
    ]
  },
  "type": "amino-acid"
}