{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139717611",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 2665,
          "referenceAllele": "Q",
          "start": 2664
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NP_006653.2:p.Gln2665Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA395635418",
          "hgvs": "NM_006662.3:c.7993C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172193"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=971046[alleleid]",
        "alleleId": 971046,
        "preferredName": "NM_006662.3(SRCAP):c.7993C>G (p.Gln2665Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/982905",
        "RCV": [
          "RCV001262634",
          "RCV004035399"
        ],
        "variationId": 982905
      }
    ]
  },
  "type": "amino-acid"
}