{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645468170",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 245,
          "referenceAllele": "I",
          "start": 244
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014294",
      "geneNCBI_id": 85358,
      "geneSymbol": "SHANK3",
      "hgvs": [
        "NP_277052.1:p.Ile245Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10325308",
          "hgvs": "NM_033517.1:c.734T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=390489[alleleid]",
        "alleleId": 390489,
        "preferredName": "NM_001372044.2(SHANK3):c.959T>C (p.Ile320Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/403431",
        "RCV": [
          "RCV000454654",
          "RCV001712414",
          "RCV001807254",
          "RCV002311766"
        ],
        "variationId": 403431
      }
    ]
  },
  "type": "amino-acid"
}