{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645414967",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 77,
          "referenceAllele": "N",
          "start": 76
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010994",
      "geneNCBI_id": 1836,
      "geneSymbol": "SLC26A2",
      "hgvs": [
        "NP_000103.2:p.Asn77His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3505223",
          "hgvs": "NM_000112.4:c.229A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146663"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=265355[alleleid]",
        "alleleId": 265355,
        "preferredName": "NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/281118",
        "RCV": [
          "RCV000398136",
          "RCV000987616",
          "RCV001154133",
          "RCV001154972",
          "RCV001154973",
          "RCV001154974",
          "RCV000539759",
          "RCV001812767"
        ],
        "variationId": 281118
      }
    ]
  },
  "type": "amino-acid"
}