{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA108578",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 510,
          "referenceAllele": "A",
          "start": 509
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011237",
      "geneNCBI_id": 6687,
      "geneSymbol": "SPG7",
      "hgvs": [
        "NP_003110.1:p.Ala510Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA090884",
          "hgvs": "NM_003119.4:c.1529C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168936"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=51184[alleleid]",
        "alleleId": 51184,
        "preferredName": "NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/42016",
        "RCV": [
          "RCV000034858",
          "RCV000195683",
          "RCV000270813",
          "RCV000515835",
          "RCV000626837",
          "RCV000623796",
          "RCV000677252",
          "RCV000850200",
          "RCV001003619",
          "RCV002463623",
          "RCV003421943"
        ],
        "variationId": 42016
      }
    ]
  },
  "type": "amino-acid"
}