{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA916074988",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "H",
          "end": 71,
          "referenceAllele": "N",
          "start": 70
        }
      ],
      "gene": "http://reg.genome.network/gene/GN026293",
      "geneNCBI_id": 79925,
      "geneSymbol": "SPEF2",
      "hgvs": [
        "NP_653323.1:p.Asn71His"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA3230100",
          "hgvs": "NM_144722.4:c.211A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS181753"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=389694[alleleid]",
        "alleleId": 389694,
        "preferredName": "NM_024867.4(SPEF2):c.211A>C (p.Asn71His)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/403471",
        "RCV": [
          "RCV000455183",
          "RCV001709652",
          "RCV001808833"
        ],
        "variationId": 403471
      }
    ]
  },
  "type": "amino-acid"
}