{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1767395769",
  "communityStandardTitle": [
    "NM_019851.3(FGF20):c.*182C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/12720208",
        "rs": 12720208
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 16992890,
          "referenceAllele": "G",
          "start": 16992889
        }
      ],
      "hgvs": [
        "NC_000008.11:g.16992890G=",
        "CM000670.2:g.16992890G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 16850399,
          "referenceAllele": "G",
          "start": 16850398
        }
      ],
      "hgvs": [
        "NC_000008.10:g.16850399G=",
        "CM000670.1:g.16850399G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "G",
          "end": 16894770,
          "referenceAllele": "G",
          "start": 16894769
        }
      ],
      "hgvs": [
        "NC_000008.9:g.16894770G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 14276,
          "referenceAllele": "C",
          "start": 14275
        }
      ],
      "hgvs": [
        "NG_015978.1:g.14276C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002932"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003677",
      "geneNCBI_id": 26281,
      "geneSymbol": "FGF20",
      "hgvs": [
        "ENST00000180166.6:c.*182C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000180166.5:n.*182C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS740090",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000180166.6:c.*182C="
          },
          "RefSeq": {
            "hgvs": "NM_019851.3:c.*182C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000180166.5:n.*182C="
          },
          "RefSeq": {
            "hgvs": "NP_062825.1:n.*182C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003677",
      "geneNCBI_id": 26281,
      "geneSymbol": "FGF20",
      "hgvs": [
        "ENST00000180166.5:c.*182C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000180166.5:n.*182C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247696"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 951,
          "referenceAllele": "C",
          "start": 950
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003677",
      "geneNCBI_id": 26281,
      "geneSymbol": "FGF20",
      "hgvs": [
        "NM_019851.2:c.*182C="
      ],
      "proteinEffect": {
        "hgvs": "NP_062825.1:n.*182C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS036151"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1131,
          "referenceAllele": "C",
          "start": 1130
        }
      ],
      "gene": "http://reg.genome.network/gene/GN003677",
      "geneNCBI_id": 26281,
      "geneSymbol": "FGF20",
      "hgvs": [
        "NM_019851.3:c.*182C="
      ],
      "proteinEffect": {
        "hgvs": "NP_062825.1:n.*182C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS669873",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000180166.6:c.*182C="
          },
          "RefSeq": {
            "hgvs": "NM_019851.3:c.*182C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000180166.5:n.*182C="
          },
          "RefSeq": {
            "hgvs": "NP_062825.1:n.*182C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}