{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580467246",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 50,
          "referenceAllele": "M",
          "start": 49
        }
      ],
      "gene": "http://reg.genome.network/gene/GN021054",
      "geneNCBI_id": 83861,
      "geneSymbol": "RSPH3",
      "hgvs": [
        "NP_114130.4:p.Met50Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA366284296",
          "hgvs": "NM_031924.8:c.149T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS739896"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1868778[alleleid]",
        "alleleId": 1868778,
        "preferredName": "NM_031924.8(RSPH3):c.149T>C (p.Met50Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2139945",
        "RCV": [
          "RCV003052862"
        ],
        "variationId": 2139945
      }
    ]
  },
  "type": "amino-acid"
}