{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580300019",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 820,
          "referenceAllele": "T",
          "start": 819
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007614",
      "geneNCBI_id": 9172,
      "geneSymbol": "MYOM2",
      "hgvs": [
        "NP_003961.3:p.Thr820Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA170458201",
          "hgvs": "NM_003970.4:c.2459C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169717"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2197135[alleleid]",
        "alleleId": 2197135,
        "preferredName": "NM_003970.4(MYOM2):c.2459C>T (p.Thr820Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2207200",
        "RCV": [
          "RCV004071561"
        ],
        "variationId": 2207200
      }
    ]
  },
  "type": "amino-acid"
}