{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA128648",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 298,
          "referenceAllele": "I",
          "start": 297
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006931",
      "geneNCBI_id": 4159,
      "geneSymbol": "MC3R",
      "hgvs": [
        "NP_063941.3:p.Ile298Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA128647",
          "hgvs": "NM_019888.3:c.893T>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2573157152",
          "hgvs": "NM_019888.3:c.892_893delinsTC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS176694"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=29379[alleleid]",
        "alleleId": 29379,
        "preferredName": "NM_019888.3(MC3R):c.893T>G (p.Ile298Ser)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1423175[alleleid]",
        "alleleId": 1423175,
        "preferredName": "NM_019888.3(MC3R):c.892_893delinsTC (p.Ile298Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/14340",
        "RCV": [
          "RCV000022658"
        ],
        "variationId": 14340
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1448476",
        "RCV": [
          "RCV002002256"
        ],
        "variationId": 1448476
      }
    ]
  },
  "type": "amino-acid"
}