{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645431307",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "M",
          "end": 37,
          "referenceAllele": "V",
          "start": 36
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004286",
      "geneNCBI_id": 127534,
      "geneSymbol": "GJB4",
      "hgvs": [
        "NP_694944.1:p.Val37Met"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA754474",
          "hgvs": "NM_153212.3:c.109G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182795"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=227213[alleleid]",
        "alleleId": 227213,
        "preferredName": "NM_153212.3(GJB4):c.109G>A (p.Val37Met)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/225376",
        "RCV": [
          "RCV000490427",
          "RCV002054359"
        ],
        "variationId": 225376
      }
    ]
  },
  "type": "amino-acid"
}