{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2826724643",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 224,
          "referenceAllele": "M",
          "start": 223
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012371",
      "geneNCBI_id": 89765,
      "geneSymbol": "RSPH1",
      "hgvs": [
        "NP_001273435.1:p.Met224Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10043746",
          "hgvs": "NM_001286506.2:c.671T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS163417"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=471202[alleleid]",
        "alleleId": 471202,
        "preferredName": "NM_080860.4(RSPH1):c.785T>C (p.Met262Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/454952",
        "RCV": [
          "RCV000550740",
          "RCV002525273"
        ],
        "variationId": 454952
      }
    ]
  },
  "type": "amino-acid"
}