{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2103418029",
  "communityStandardTitle": [
    "NC_000013.11:g.76992067C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61504484",
        "rs": 61504484
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 76992067,
          "referenceAllele": "C",
          "start": 76992066
        }
      ],
      "hgvs": [
        "NC_000013.11:g.76992067C=",
        "CM000675.2:g.76992067C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000061"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 77566202,
          "referenceAllele": "C",
          "start": 77566201
        }
      ],
      "hgvs": [
        "NC_000013.10:g.77566202C=",
        "CM000675.1:g.77566202C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000037"
    },
    {
      "chromosome": "13",
      "coordinates": [
        {
          "allele": "C",
          "end": 76464203,
          "referenceAllele": "C",
          "start": 76464202
        }
      ],
      "hgvs": [
        "NC_000013.9:g.76464203C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000013"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 5144,
          "referenceAllele": "C",
          "start": 5143
        }
      ],
      "hgvs": [
        "NG_009064.1:g.5144C=",
        "LRG_692:g.5144C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001406"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 9,
          "referenceAllele": "C",
          "start": 8
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000485938.4:c.-32C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000482959.3:n.-32C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS757521"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "C",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636183.2:c.-32C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000490181.2:n.-32C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS762933"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 24,
          "referenceAllele": "C",
          "start": 23
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000636780.2:c.-32C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000489809.2:n.-32C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS763375"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1408,
          "referenceAllele": "C",
          "start": 1407
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "ENST00000377453.7:c.116C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000366673.3:p.Ser39="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS271604"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829667248",
      "coordinates": [
        {
          "allele": "C",
          "end": 144,
          "referenceAllele": "C",
          "start": 143
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "NM_006493.2:c.116C=",
        "LRG_692t1:c.116C="
      ],
      "proteinEffect": {
        "hgvs": "NP_006484.1:p.Ser39="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS031503"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 131,
          "referenceAllele": "C",
          "start": 130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002076",
      "geneNCBI_id": 1203,
      "geneSymbol": "CLN5",
      "hgvs": [
        "XM_011534917.1:c.116C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011533219.1:p.Ser39="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101928"
    }
  ],
  "type": "nucleotide"
}