{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2466617174",
  "communityStandardTitle": [
    "NM_000513.2(OPN1MW):c.282C= (p.Asn94=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/104894915",
        "rs": 104894915
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 154187939,
          "referenceAllele": "C",
          "start": 154187938
        }
      ],
      "hgvs": [
        "NC_000023.11:g.154187939C=",
        "CM000685.2:g.154187939C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000071"
    },
    {
      "chromosome": "X",
      "coordinates": [
        {
          "allele": "C",
          "end": 153453428,
          "referenceAllele": "C",
          "start": 153453427
        }
      ],
      "hgvs": [
        "NC_000023.10:g.153453428C=",
        "CM000685.1:g.153453428C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000047"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 10344,
          "referenceAllele": "C",
          "start": 10343
        }
      ],
      "hgvs": [
        "NG_011606.1:g.10344C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616142"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004206",
      "geneNCBI_id": 2652,
      "geneSymbol": "OPN1MW",
      "hgvs": [
        "ENST00000595290.6:c.282C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472316.1:p.Asn94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS761369",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000595290.6:c.282C="
          },
          "RefSeq": {
            "hgvs": "NM_000513.2:c.282C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000472316.1:p.Asn94="
          },
          "RefSeq": {
            "hgvs": "NP_000504.1:p.Asn94="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004206",
      "geneNCBI_id": 2652,
      "geneSymbol": "OPN1MW",
      "hgvs": [
        "ENST00000595290.5:c.282C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000472316.1:p.Asn94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS395009"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 292,
          "referenceAllele": "C",
          "start": 291
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004206",
      "geneNCBI_id": 2652,
      "geneSymbol": "OPN1MW",
      "hgvs": [
        "ENST00000595330.1:n.292C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS395028"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063194189",
      "coordinates": [
        {
          "allele": "C",
          "end": 364,
          "referenceAllele": "C",
          "start": 363
        }
      ],
      "gene": "http://reg.genome.network/gene/GN004206",
      "geneNCBI_id": 2652,
      "geneSymbol": "OPN1MW",
      "hgvs": [
        "NM_000513.2:c.282C="
      ],
      "proteinEffect": {
        "hgvs": "NP_000504.1:p.Asn94="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006569",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000595290.6:c.282C="
          },
          "RefSeq": {
            "hgvs": "NM_000513.2:c.282C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000472316.1:p.Asn94="
          },
          "RefSeq": {
            "hgvs": "NP_000504.1:p.Asn94="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}