{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2580235004",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 2291,
          "referenceAllele": "V",
          "start": 2290
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002961",
      "geneNCBI_id": 1778,
      "geneSymbol": "DYNC1H1",
      "hgvs": [
        "NP_001367.2:p.Val2291Gly"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA391058435",
          "hgvs": "NM_001376.5:c.6872T>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS167312"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1706556[alleleid]",
        "alleleId": 1706556,
        "preferredName": "NM_001376.5(DYNC1H1):c.6872T>G (p.Val2291Gly)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1708257",
        "RCV": [
          "RCV002287630"
        ],
        "variationId": 1708257
      }
    ]
  },
  "type": "amino-acid"
}