{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916018320",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 74,
          "referenceAllele": "S",
          "start": 73
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006930",
      "geneNCBI_id": 4158,
      "geneSymbol": "MC2R",
      "hgvs": [
        "NP_001278840.1:p.Ser74Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA116116",
          "hgvs": "NM_001291911.1:c.221G>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS164835"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=18297[alleleid]",
        "alleleId": 18297,
        "preferredName": "NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3258",
        "RCV": [
          "RCV000003414",
          "RCV000583288",
          "RCV002512707"
        ],
        "variationId": 3258
      }
    ]
  },
  "type": "amino-acid"
}