{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2829417817",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 2295,
          "referenceAllele": "D",
          "start": 2294
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011273",
      "geneNCBI_id": 6709,
      "geneSymbol": "SPTAN1",
      "hgvs": [
        "NP_003118.2:p.Asp2295Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA318747",
          "hgvs": "NM_003127.4:c.6884A>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168944"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202438[alleleid]",
        "alleleId": 202438,
        "preferredName": "NM_001130438.3(SPTAN1):c.6899A>T (p.Asp2300Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207359",
        "RCV": [
          "RCV000189533",
          "RCV001542587"
        ],
        "variationId": 207359
      }
    ]
  },
  "type": "amino-acid"
}