{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA226117",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "L",
          "end": 1009,
          "referenceAllele": "M",
          "start": 1008
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004689",
      "geneNCBI_id": 3000,
      "geneSymbol": "GUCY2D",
      "hgvs": [
        "NP_000171.1:p.Met1009Leu"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA226116",
          "hgvs": "NM_000180.4:c.3025A>T"
        },
        {
          "@id": "http://reg.genome.network/allele/CA287534181",
          "hgvs": "NM_000180.4:c.3025A>C"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS146730"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104476[alleleid]",
        "alleleId": 104476,
        "preferredName": "NM_000180.4(GUCY2D):c.3025A>T (p.Met1009Leu)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=856903[alleleid]",
        "alleleId": 856903,
        "preferredName": "NM_000180.4(GUCY2D):c.3025A>C (p.Met1009Leu)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98586",
        "RCV": [
          "RCV000084881",
          "RCV001250853"
        ],
        "variationId": 98586
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/866787",
        "RCV": [
          "RCV001075091",
          "RCV003156316"
        ],
        "variationId": 866787
      }
    ]
  },
  "type": "amino-acid"
}