{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA250662",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 1375,
          "referenceAllele": "P",
          "start": 1374
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002701",
      "geneNCBI_id": 1630,
      "geneSymbol": "DCC",
      "hgvs": [
        "NP_005206.2:p.Pro1375His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA250661",
          "hgvs": "NM_005215.4:c.4124C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS170863"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=32113[alleleid]",
        "alleleId": 32113,
        "preferredName": "NM_005215.4(DCC):c.4124C>A (p.Pro1375His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/17074",
        "RCV": [
          "RCV000018603"
        ],
        "variationId": 17074
      }
    ]
  },
  "type": "amino-acid"
}