{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580348466",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 2988,
          "referenceAllele": "T",
          "start": 2987
        }
      ],
      "gene": "http://reg.genome.network/gene/GN016974",
      "geneNCBI_id": 10847,
      "geneSymbol": "SRCAP",
      "hgvs": [
        "NP_006653.2:p.Thr2988Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8012803",
          "hgvs": "NM_006662.3:c.8963C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172193"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1869404[alleleid]",
        "alleleId": 1869404,
        "preferredName": "NM_006662.3(SRCAP):c.8963C>T (p.Thr2988Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2141869",
        "RCV": [
          "RCV003058767"
        ],
        "variationId": 2141869
      }
    ]
  },
  "type": "amino-acid"
}