{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA122750",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 970,
          "referenceAllele": "A",
          "start": 969
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011272",
      "geneNCBI_id": 6708,
      "geneSymbol": "SPTA1",
      "hgvs": [
        "NP_003117.2:p.Ala970Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA122749",
          "hgvs": "NM_003126.2:c.2909C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168943"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=27885[alleleid]",
        "alleleId": 27885,
        "preferredName": "NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/12846",
        "RCV": [
          "RCV000013699",
          "RCV000251633",
          "RCV000315888",
          "RCV000986444",
          "RCV001810857",
          "RCV002496348"
        ],
        "variationId": 12846
      }
    ]
  },
  "type": "amino-acid"
}