{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830378666",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 82,
          "referenceAllele": "M",
          "start": 81
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002171",
      "geneNCBI_id": 1272,
      "geneSymbol": "CNTN1",
      "hgvs": [
        "NP_778203.1:p.Met82Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6516571",
          "hgvs": "NM_175038.2:c.245T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS183656"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=408647[alleleid]",
        "alleleId": 408647,
        "preferredName": "NM_001843.4(CNTN1):c.278T>C (p.Met93Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/423311",
        "RCV": [
          "RCV000481172",
          "RCV001044442"
        ],
        "variationId": 423311
      }
    ]
  },
  "type": "amino-acid"
}