{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1143474187",
  "communityStandardTitle": [
    "NM_005562.3(LAMC2):c.3385C= (p.Arg1129=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/201307156",
        "rs": 201307156
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 183243203,
          "referenceAllele": "C",
          "start": 183243202
        }
      ],
      "hgvs": [
        "NC_000001.11:g.183243203C=",
        "CM000663.2:g.183243203C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 183212338,
          "referenceAllele": "C",
          "start": 183212337
        }
      ],
      "hgvs": [
        "NC_000001.10:g.183212338C=",
        "CM000663.1:g.183212338C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 181478961,
          "referenceAllele": "C",
          "start": 181478960
        }
      ],
      "hgvs": [
        "NC_000001.9:g.181478961C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 61940,
          "referenceAllele": "C",
          "start": 61939
        }
      ],
      "hgvs": [
        "NG_007079.2:g.61940C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000459"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3474,
          "referenceAllele": "C",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.5:c.3385C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Arg1129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742623",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.3385C="
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.3385C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Arg1129="
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Arg1129="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 3450,
          "referenceAllele": "C",
          "start": 3449
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "ENST00000264144.4:c.3385C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000264144.4:p.Arg1129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS251425"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829602430",
      "coordinates": [
        {
          "allele": "C",
          "end": 3699,
          "referenceAllele": "C",
          "start": 3698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.2:c.3385C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Arg1129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030653"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2829602430",
      "coordinates": [
        {
          "allele": "C",
          "end": 3474,
          "referenceAllele": "C",
          "start": 3473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006493",
      "geneNCBI_id": 3918,
      "geneSymbol": "LAMC2",
      "hgvs": [
        "NM_005562.3:c.3385C="
      ],
      "proteinEffect": {
        "hgvs": "NP_005553.2:p.Arg1129="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS696456",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000264144.5:c.3385C="
          },
          "RefSeq": {
            "hgvs": "NM_005562.3:c.3385C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000264144.4:p.Arg1129="
          },
          "RefSeq": {
            "hgvs": "NP_005553.2:p.Arg1129="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}