{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA2830303299",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "D",
          "end": 334,
          "referenceAllele": "N",
          "start": 333
        }
      ],
      "gene": "http://reg.genome.network/gene/GN014432",
      "geneNCBI_id": 65062,
      "geneSymbol": "TMEM237",
      "hgvs": [
        "NP_689601.2:p.Asn334Asp"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2056327",
          "hgvs": "NM_152388.4:c.1000A>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS182352"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=250480[alleleid]",
        "alleleId": 250480,
        "preferredName": "NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/257313",
        "RCV": [
          "RCV000243342",
          "RCV000402180",
          "RCV000986978"
        ],
        "variationId": 257313
      }
    ]
  },
  "type": "amino-acid"
}