{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2573089403",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 2247,
          "referenceAllele": "Y",
          "start": 2246
        }
      ],
      "gene": "http://reg.genome.network/gene/GN011276",
      "geneNCBI_id": 6712,
      "geneSymbol": "SPTBN2",
      "hgvs": [
        "NP_008877.2:p.Tyr2247His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA6127798",
          "hgvs": "NM_006946.4:c.6739T>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS707728"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=626208[alleleid]",
        "alleleId": 626208,
        "preferredName": "NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/638445",
        "RCV": [
          "RCV000791109",
          "RCV004027386",
          "RCV002535829"
        ],
        "variationId": 638445
      }
    ]
  },
  "type": "amino-acid"
}