{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108749",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 791,
          "referenceAllele": "D",
          "start": 790
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "NP_003117.2:p.Asp791Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122762",
          "hgvs": "NM_003126.2:c.2373C>A"
        },
        {
          "@id": "http://reg.genome.network/allele/CA343002570",
          "hgvs": "NM_003126.2:c.2373C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27898[alleleid]",
        "alleleId": 27898,
        "preferredName": "NM_003126.4(SPTA1):c.2373C>A (p.Asp791Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12859",
        "RCV": [
          "RCV000013717",
          "RCV000345657",
          "RCV000404574",
          "RCV001508911",
          "RCV004017236"
        ],
        "variationId": 12859
      }
    ]
  },
  "type": "amino-acid"
}