{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2499277081",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1310,
          "referenceAllele": "D",
          "start": 1309
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021316",
      "geneNCBI_id": 29123,
      "geneSymbol": "ANKRD11",
      "hgvs": [
        "NP_037407.4:p.Asp1310Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA8242255",
          "hgvs": "NM_013275.6:c.3930C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA397158679",
          "hgvs": "NM_013275.6:c.3930C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS173216"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1243760[alleleid]",
        "alleleId": 1243760,
        "preferredName": "NM_013275.6(ANKRD11):c.3930C>G (p.Asp1310Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1253823",
        "RCV": [
          "RCV001664966",
          "RCV002539596"
        ],
        "variationId": 1253823
      }
    ]
  },
  "type": "amino-acid"
}