{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/PA134324",
  "aminoAcidAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 1101,
          "referenceAllele": "V",
          "start": 1100
        }
      ],
      "gene": "http://reg.genome.network/gene/GN007576",
      "geneNCBI_id": 4624,
      "geneSymbol": "MYH6",
      "hgvs": [
        "NP_002462.2:p.Val1101Ala"
      ],
      "matchingRegisteredTranscripts": [
        {
          "@id": "http://reg.genome.network/allele/CA134322",
          "hgvs": "NM_002471.4:c.3302T>C"
        },
        {
          "@id": "http://reg.genome.network/allele/CA10583166",
          "hgvs": "NM_002471.4:c.3302_3303delinsCA"
        },
        {
          "@id": "http://reg.genome.network/allele/CA3054211000",
          "hgvs": "NM_002471.4:c.3297_3302delinsACAGGC"
        }
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS168320"
    }
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=53647[alleleid]",
        "alleleId": 53647,
        "preferredName": "NM_002471.4(MYH6):c.3302T>C (p.Val1101Ala)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=241809[alleleid]",
        "alleleId": 241809,
        "preferredName": "NM_002471.4(MYH6):c.3302_3303inv (p.Val1101Ala)"
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3710755[alleleid]",
        "alleleId": 3710755,
        "preferredName": "NM_002471.4(MYH6):c.3297_3302delinsACAGGC (p.Val1101Ala)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/44480",
        "RCV": [
          "RCV000037473",
          "RCV000244685",
          "RCV001513926",
          "RCV001668160"
        ],
        "variationId": 44480
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/239165",
        "RCV": [
          "RCV000231267",
          "RCV000621761",
          "RCV001589180"
        ],
        "variationId": 239165
      },
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3576536",
        "RCV": [
          "RCV005007171"
        ],
        "variationId": 3576536
      }
    ]
  },
  "type": "amino-acid"
}