{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825205576",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 131,
          "referenceAllele": "T",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010801",
      "geneNCBI_id": 6439,
      "geneSymbol": "SFTPB",
      "hgvs": [
        "NP_000533.4:p.Thr131Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA177942",
          "hgvs": "NM_000542.5:c.392C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS674379"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=173673[alleleid]",
        "alleleId": 173673,
        "preferredName": "NM_000542.5(SFTPB):c.392C>T (p.Thr131Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/165204",
        "RCV": [
          "RCV000151850",
          "RCV000263751",
          "RCV001723716",
          "RCV002326870"
        ],
        "variationId": 165204
      }
    ]
  },
  "type": "amino-acid"
}