{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA214147",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "N",
          "end": 269,
          "referenceAllele": "I",
          "start": 268
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006932",
      "geneNCBI_id": 4160,
      "geneSymbol": "MC4R",
      "hgvs": [
        "NP_005903.2:p.Ile269Asn"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA214146",
          "hgvs": "NM_005912.3:c.806T>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS171503"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=45148[alleleid]",
        "alleleId": 45148,
        "preferredName": "NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/36486",
        "RCV": [
          "RCV000030158",
          "RCV000499660",
          "RCV000906648",
          "RCV002285259"
        ],
        "variationId": 36486
      }
    ]
  },
  "type": "amino-acid"
}