{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1140725788",
  "communityStandardTitle": [
    "NM_000329.3(RPE65):c.499G= (p.Asp167=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61752883",
        "rs": 61752883
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 68440997,
          "referenceAllele": "C",
          "start": 68440996
        }
      ],
      "hgvs": [
        "NC_000001.11:g.68440997C=",
        "CM000663.2:g.68440997C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 68906680,
          "referenceAllele": "C",
          "start": 68906679
        }
      ],
      "hgvs": [
        "NC_000001.10:g.68906680C=",
        "CM000663.1:g.68906680C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 68679268,
          "referenceAllele": "C",
          "start": 68679267
        }
      ],
      "hgvs": [
        "NC_000001.9:g.68679268C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13963,
          "referenceAllele": "G",
          "start": 13962
        }
      ],
      "hgvs": [
        "NG_008472.1:g.13963G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001112"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 13963,
          "referenceAllele": "G",
          "start": 13962
        }
      ],
      "hgvs": [
        "NG_008472.2:g.13963G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673504"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.6:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Asp167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.499G="
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.499G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Asp167="
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Asp167="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.5:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Asp167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825124954",
      "coordinates": [
        {
          "allele": "G",
          "end": 553,
          "referenceAllele": "G",
          "start": 552
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.2:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Asp167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006392"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 765,
          "referenceAllele": "G",
          "start": 764
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "XM_017002027.1:c.223G="
      ],
      "proteinEffect": {
        "hgvs": "XP_016857516.1:p.Asp75="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825124954",
      "coordinates": [
        {
          "allele": "G",
          "end": 548,
          "referenceAllele": "G",
          "start": 547
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.3:c.499G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Asp167="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.499G="
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.499G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Asp167="
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Asp167="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}