{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645398727",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 1133,
          "referenceAllele": "T",
          "start": 1132
        }
      ],
      "gene": "http://reg.genome.network/gene/GN020626",
      "geneNCBI_id": 55636,
      "geneSymbol": "CHD7",
      "hgvs": [
        "NP_060250.2:p.Thr1133Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA16618664",
          "hgvs": "NM_017780.4:c.3398C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS175715"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=407414[alleleid]",
        "alleleId": 407414,
        "preferredName": "NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/418124",
        "RCV": [
          "RCV000479619",
          "RCV000624092",
          "RCV000763600",
          "RCV001366746"
        ],
        "variationId": 418124
      }
    ]
  },
  "type": "amino-acid"
}