{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA173536",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "I",
          "end": 444,
          "referenceAllele": "V",
          "start": 443
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011273",
      "geneNCBI_id": 6709,
      "geneSymbol": "SPTAN1",
      "hgvs": [
        "NP_001123910.1:p.Val444Ile"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA173535",
          "hgvs": "NM_001130438.3:c.1330G>A"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS152493"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=142972[alleleid]",
        "alleleId": 142972,
        "preferredName": "NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/139269",
        "RCV": [
          "RCV000128230",
          "RCV000454129",
          "RCV000458268",
          "RCV000988260",
          "RCV002312608",
          "RCV001357611"
        ],
        "variationId": 139269
      }
    ]
  },
  "type": "amino-acid"
}