{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1980082364",
  "communityStandardTitle": [
    "NM_013246.3(CLCF1):c.590G= (p.Arg197=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894203",
        "rs": 104894203
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 67365224,
          "referenceAllele": "C",
          "start": 67365223
        }
      ],
      "hgvs": [
        "NC_000011.10:g.67365224C=",
        "CM000673.2:g.67365224C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000059"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 67132695,
          "referenceAllele": "C",
          "start": 67132694
        }
      ],
      "hgvs": [
        "NC_000011.9:g.67132695C=",
        "CM000673.1:g.67132695C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000035"
    },
    {
      "chromosome": "11",
      "coordinates": [
        {
          "allele": "C",
          "end": 66889271,
          "referenceAllele": "C",
          "start": 66889270
        }
      ],
      "hgvs": [
        "NC_000011.8:g.66889271C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000011"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13954,
          "referenceAllele": "G",
          "start": 13953
        }
      ],
      "hgvs": [
        "NG_013377.1:g.13954G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002826"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017412",
      "geneNCBI_id": 23529,
      "geneSymbol": "CLCF1",
      "hgvs": [
        "ENST00000312438.8:c.590G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309338.7:p.Arg197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745793",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000312438.8:c.590G="
          },
          "RefSeq": {
            "hgvs": "NM_013246.3:c.590G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309338.7:p.Arg197="
          },
          "RefSeq": {
            "hgvs": "NP_037378.1:p.Arg197="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 788,
          "referenceAllele": "G",
          "start": 787
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017412",
      "geneNCBI_id": 23529,
      "geneSymbol": "CLCF1",
      "hgvs": [
        "ENST00000312438.7:c.590G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000309338.7:p.Arg197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256685"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017412",
      "geneNCBI_id": 23529,
      "geneSymbol": "CLCF1",
      "hgvs": [
        "ENST00000533438.1:c.560G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000434122.1:p.Arg187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS358213"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 61,
          "endIntronDirection": "+",
          "endIntronOffset": 8300,
          "referenceAllele": "G",
          "start": 61,
          "startIntronDirection": "+",
          "startIntronOffset": 8299
        }
      ],
      "hgvs": [
        "ENST00000543494.1:c.16+8300G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000480527.1:n.16+8300G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS364037"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 391,
          "endIntronDirection": "-",
          "endIntronOffset": 22310,
          "referenceAllele": "C",
          "start": 391,
          "startIntronDirection": "-",
          "startIntronOffset": 22311
        }
      ],
      "gene": "http://reg.genome.network/gene/GN009827",
      "geneNCBI_id": 5883,
      "geneSymbol": "RAD9A",
      "hgvs": [
        "ENST00000622583.4:n.392-22311C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS405802"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017412",
      "geneNCBI_id": 23529,
      "geneSymbol": "CLCF1",
      "hgvs": [
        "NM_001166212.1:c.560G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159684.1:p.Arg187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014825"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077706461",
      "coordinates": [
        {
          "allele": "G",
          "end": 786,
          "referenceAllele": "G",
          "start": 785
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017412",
      "geneNCBI_id": 23529,
      "geneSymbol": "CLCF1",
      "hgvs": [
        "NM_013246.2:c.590G="
      ],
      "proteinEffect": {
        "hgvs": "NP_037378.1:p.Arg197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS032651"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 423,
          "endIntronDirection": "-",
          "endIntronOffset": 22310,
          "referenceAllele": "C",
          "start": 423,
          "startIntronDirection": "-",
          "startIntronOffset": 22311
        }
      ],
      "hgvs": [
        "NR_024469.1:n.424-22311C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS046984"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3077706461",
      "coordinates": [
        {
          "allele": "G",
          "end": 649,
          "referenceAllele": "G",
          "start": 648
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017412",
      "geneNCBI_id": 23529,
      "geneSymbol": "CLCF1",
      "hgvs": [
        "NM_013246.3:c.590G="
      ],
      "proteinEffect": {
        "hgvs": "NP_037378.1:p.Arg197="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS668077",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000312438.8:c.590G="
          },
          "RefSeq": {
            "hgvs": "NM_013246.3:c.590G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000309338.7:p.Arg197="
          },
          "RefSeq": {
            "hgvs": "NP_037378.1:p.Arg197="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 705,
          "referenceAllele": "G",
          "start": 704
        }
      ],
      "gene": "http://reg.genome.network/gene/GN017412",
      "geneNCBI_id": 23529,
      "geneSymbol": "CLCF1",
      "hgvs": [
        "NM_001166212.2:c.560G="
      ],
      "proteinEffect": {
        "hgvs": "NP_001159684.1:p.Arg187="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678470"
    }
  ],
  "type": "nucleotide"
}