{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA263249",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 386,
          "referenceAllele": "A",
          "start": 385
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NP_000103.2:p.Ala386Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA263247",
          "hgvs": "NM_000112.4:c.1157C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146663"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=70651[alleleid]",
        "alleleId": 70651,
        "preferredName": "NM_000112.4(SLC26A2):c.1157C>T (p.Ala386Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/56012",
        "RCV": [
          "RCV000049421",
          "RCV001388086",
          "RCV003474627"
        ],
        "variationId": 56012
      }
    ]
  },
  "type": "amino-acid"
}