{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA658664404",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "V",
          "end": 131,
          "referenceAllele": "L",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009143",
      "geneNCBI_id": 8929,
      "geneSymbol": "PHOX2B",
      "hgvs": [
        "NP_003915.2:p.Leu131Val"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA2901525",
          "hgvs": "NM_003924.4:c.391C>G"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS169678"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=453451[alleleid]",
        "alleleId": 453451,
        "preferredName": "NM_003924.4(PHOX2B):c.391C>G (p.Leu131Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/467725",
        "RCV": [
          "RCV001021436",
          "RCV000536791",
          "RCV003476288"
        ],
        "variationId": 467725
      }
    ]
  },
  "type": "amino-acid"
}