{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830185497",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 580,
          "referenceAllele": "M",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000866",
      "geneNCBI_id": 50617,
      "geneSymbol": "ATP6V0A4",
      "hgvs": [
        "NP_570855.2:p.Met580Thr"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA117293",
          "hgvs": "NM_130840.3:c.1739T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA2580077501",
          "hgvs": "NM_130840.3:c.1739_1740delinsCA"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS180952"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=20193[alleleid]",
        "alleleId": 20193,
        "preferredName": "NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1914975[alleleid]",
        "alleleId": 1914975,
        "preferredName": "NM_020632.3(ATP6V0A4):c.1739_1740inv (p.Met580Thr)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/5154",
        "RCV": [
          "RCV000005461",
          "RCV000244134",
          "RCV001512758",
          "RCV001807628"
        ],
        "variationId": 5154
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2188863",
        "RCV": [
          "RCV002620552"
        ],
        "variationId": 2188863
      }
    ]
  },
  "type": "amino-acid"
}