{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829660949",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 218,
          "referenceAllele": "A",
          "start": 217
        }
      ],
      "gene": "http://reg.genome.network/gene/GN012399",
      "geneNCBI_id": 9499,
      "geneSymbol": "MYOT",
      "hgvs": [
        "NP_006781.1:p.Ala218Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3422996",
          "hgvs": "NM_006790.3:c.653C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS172306"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3027401[alleleid]",
        "alleleId": 3027401,
        "preferredName": "NM_006790.3(MYOT):c.653C>T (p.Ala218Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2867614",
        "RCV": [
          "RCV003616969"
        ],
        "variationId": 2867614
      }
    ]
  },
  "type": "amino-acid"
}