{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA277793",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "S",
          "end": 242,
          "referenceAllele": "N",
          "start": 241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN028396",
      "geneNCBI_id": 91147,
      "geneSymbol": "TMEM67",
      "hgvs": [
        "NP_714915.3:p.Asn242Ser"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA277789",
          "hgvs": "NM_153704.6:c.725A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182992"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=212652[alleleid]",
        "alleleId": 212652,
        "preferredName": "NM_153704.6(TMEM67):c.725A>G (p.Asn242Ser)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/216826",
        "RCV": [
          "RCV000198666",
          "RCV000201726",
          "RCV000624166",
          "RCV001090385",
          "RCV002283466",
          "RCV001814102"
        ],
        "variationId": 216826
      }
    ]
  },
  "type": "amino-acid"
}