{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA1139741953",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "RM",
          "end": 2330,
          "referenceAllele": "",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011273",
      "geneNCBI_id": 6709,
      "geneSymbol": "SPTAN1",
      "hgvs": [
        "NP_001350688.1:p.Arg2329_Met2330dup"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA318769",
          "hgvs": "NM_001363759.2:c.6986_6991dup"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS618054"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=202442[alleleid]",
        "alleleId": 202442,
        "preferredName": "NM_001130438.3(SPTAN1):c.6917GCATGC[3] (p.Arg2308_Met2309dup)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/207370",
        "RCV": [
          "RCV000189545",
          "RCV000416988",
          "RCV001195886"
        ],
        "variationId": 207370
      }
    ]
  },
  "type": "amino-acid"
}