{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1143573569",
  "communityStandardTitle": [
    "NM_000329.3(RPE65):c.130C= (p.Arg44=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/368088025",
        "rs": 368088025
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 68446825,
          "referenceAllele": "G",
          "start": 68446824
        }
      ],
      "hgvs": [
        "NC_000001.11:g.68446825G=",
        "CM000663.2:g.68446825G="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 68912508,
          "referenceAllele": "G",
          "start": 68912507
        }
      ],
      "hgvs": [
        "NC_000001.10:g.68912508G=",
        "CM000663.1:g.68912508G="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 68685096,
          "referenceAllele": "G",
          "start": 68685095
        }
      ],
      "hgvs": [
        "NC_000001.9:g.68685096G="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8135,
          "referenceAllele": "C",
          "start": 8134
        }
      ],
      "hgvs": [
        "NG_008472.1:g.8135C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001112"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 8135,
          "referenceAllele": "C",
          "start": 8134
        }
      ],
      "hgvs": [
        "NG_008472.2:g.8135C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673504"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.6:c.130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Arg44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.130C="
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.130C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Arg44="
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Arg44="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.5:c.130C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Arg44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063897176",
      "coordinates": [
        {
          "allele": "C",
          "end": 184,
          "referenceAllele": "C",
          "start": 183
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.2:c.130C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Arg44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006392"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 511,
          "endIntronDirection": "+",
          "endIntronOffset": 1799,
          "referenceAllele": "C",
          "start": 511,
          "startIntronDirection": "+",
          "startIntronOffset": 1798
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "XM_017002027.1:c.-32+1799C="
      ],
      "proteinEffect": {
        "hgvs": "XP_016857516.1:n.-32+1799C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063897176",
      "coordinates": [
        {
          "allele": "C",
          "end": 179,
          "referenceAllele": "C",
          "start": 178
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.3:c.130C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Arg44="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.130C="
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.130C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Arg44="
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Arg44="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}