{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2320559236",
  "communityStandardTitle": [
    "NM_000064.4(C3):c.2441-24C="
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/366510",
        "rs": 366510
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 6697818,
          "referenceAllele": "G",
          "start": 6697817
        }
      ],
      "hgvs": [
        "NC_000019.10:g.6697818G=",
        "CM000681.2:g.6697818G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 6697829,
          "referenceAllele": "G",
          "start": 6697828
        }
      ],
      "hgvs": [
        "NC_000019.9:g.6697829G=",
        "CM000681.1:g.6697829G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000043"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "G",
          "end": 6648829,
          "referenceAllele": "G",
          "start": 6648828
        }
      ],
      "hgvs": [
        "NC_000019.8:g.6648829G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 27834,
          "referenceAllele": "C",
          "start": 27833
        }
      ],
      "hgvs": [
        "NG_009557.1:g.27834C=",
        "LRG_27:g.27834C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001609"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 788,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 788,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695651.1:n.789-24C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907155"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2767,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 2767,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695652.1:c.2318-24C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512083.1:n.2318-24C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907156"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 503,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 503,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695653.1:c.350-24C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512084.1:n.350-24C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907157"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1564,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 1564,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695654.1:c.1565-24C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512085.1:n.1565-24C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907158"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1381,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 1381,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695655.1:c.1382-24C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000512086.1:n.1382-24C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS907159"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1804,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 1804,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000695692.1:n.1805-24C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS907195"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2501,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 2501,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000245907.11:c.2441-24C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245907.4:n.2441-24C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS741267",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245907.11:c.2441-24C="
          },
          "RefSeq": {
            "hgvs": "NM_000064.4:c.2441-24C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245907.4:n.2441-24C="
          },
          "RefSeq": {
            "hgvs": "NP_000055.2:n.2441-24C="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2533,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 2533,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000245907.10:c.2441-24C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000245907.4:n.2441-24C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS249408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 488,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 488,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "ENST00000602053.1:n.489-24C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS398003"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2533,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 2533,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "NM_000064.3:c.2441-24C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000055.2:n.2441-24C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006128"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 2501,
          "endIntronDirection": "-",
          "endIntronOffset": 23,
          "referenceAllele": "C",
          "start": 2501,
          "startIntronDirection": "-",
          "startIntronOffset": 24
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001318",
      "geneNCBI_id": 718,
      "geneSymbol": "C3",
      "hgvs": [
        "NM_000064.4:c.2441-24C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000055.2:n.2441-24C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS674683",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000245907.11:c.2441-24C="
          },
          "RefSeq": {
            "hgvs": "NM_000064.4:c.2441-24C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000245907.4:n.2441-24C="
          },
          "RefSeq": {
            "hgvs": "NP_000055.2:n.2441-24C="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}