{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2825835162",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 244,
          "referenceAllele": "A",
          "start": 243
        }
      ],
      "gene": "http://reg.genome.network/gene/GN030213",
      "geneNCBI_id": 23400,
      "geneSymbol": "ATP13A2",
      "hgvs": [
        "NP_001135445.1:p.Ala244Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA637499",
          "hgvs": "NM_001141973.3:c.731C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS153255"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=576078[alleleid]",
        "alleleId": 576078,
        "preferredName": "NM_022089.4(ATP13A2):c.746C>T (p.Ala249Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/585085",
        "RCV": [
          "RCV000709867",
          "RCV000761644",
          "RCV001079927",
          "RCV002388353"
        ],
        "variationId": 585085
      }
    ]
  },
  "type": "amino-acid"
}