{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580300046",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "E",
          "end": 1317,
          "referenceAllele": "D",
          "start": 1316
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007614",
      "geneNCBI_id": 9172,
      "geneSymbol": "MYOM2",
      "hgvs": [
        "NP_003961.3:p.Asp1317Glu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA170466459",
          "hgvs": "NM_003970.4:c.3951C>G"
        },
        {
          "@id": "http://reg.genome.network/allele/CA369988939",
          "hgvs": "NM_003970.4:c.3951C>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169717"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2196024[alleleid]",
        "alleleId": 2196024,
        "preferredName": "NM_003970.4(MYOM2):c.3951C>G (p.Asp1317Glu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2203923",
        "RCV": [
          "RCV004072267"
        ],
        "variationId": 2203923
      }
    ]
  },
  "type": "amino-acid"
}