{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2828743114",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 1258,
          "referenceAllele": "D",
          "start": 1257
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010250",
      "geneNCBI_id": 6092,
      "geneSymbol": "ROBO2",
      "hgvs": [
        "NP_001365119.1:p.Asp1258Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA353532438",
          "hgvs": "NM_001378190.1:c.3772G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS738120"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=983669[alleleid]",
        "alleleId": 983669,
        "preferredName": "NM_001395656.1(ROBO2):c.3724G>A (p.Asp1242Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/995968",
        "RCV": [
          "RCV001290224"
        ],
        "variationId": 995968
      }
    ]
  },
  "type": "amino-acid"
}