{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA645500920",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 281,
          "referenceAllele": "S",
          "start": 280
        }
      ],
      "gene": "http://reg.genome.network/gene/GN008079",
      "geneNCBI_id": 90167,
      "geneSymbol": "FRMD7",
      "hgvs": [
        "NP_919253.1:p.Ser281Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA10518973",
          "hgvs": "NM_194277.3:c.842C>T"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS184826"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=257753[alleleid]",
        "alleleId": 257753,
        "preferredName": "NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/263090",
        "RCV": [
          "RCV000247785",
          "RCV000990946",
          "RCV001510627"
        ],
        "variationId": 263090
      }
    ]
  },
  "type": "amino-acid"
}