{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1181418763",
  "communityStandardTitle": [
    "NM_000350.3(ABCA4):c.3607G= (p.Gly1203=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793011",
        "rs": 1064793011
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 94040043,
          "referenceAllele": "C",
          "start": 94040042
        }
      ],
      "hgvs": [
        "NC_000001.11:g.94040043C=",
        "CM000663.2:g.94040043C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 94505599,
          "referenceAllele": "C",
          "start": 94505598
        }
      ],
      "hgvs": [
        "NC_000001.10:g.94505599C=",
        "CM000663.1:g.94505599C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "C",
          "end": 94278187,
          "referenceAllele": "C",
          "start": 94278186
        }
      ],
      "hgvs": [
        "NC_000001.9:g.94278187C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 86107,
          "referenceAllele": "G",
          "start": 86106
        }
      ],
      "hgvs": [
        "NG_009073.1:g.86107G="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001411"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3710,
          "referenceAllele": "G",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.4:c.3607G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Gly1203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750567",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.3607G="
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.3607G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Gly1203="
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Gly1203="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 3694,
          "referenceAllele": "G",
          "start": 3693
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.3:c.3607G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Gly1203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267946"
    },
    {
      "coordinates": [
        {
          "allele": "G",
          "end": 123,
          "referenceAllele": "G",
          "start": 122
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000536513.5:c.-18G="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439707.2:n.-18G="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360296"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063965921",
      "coordinates": [
        {
          "allele": "G",
          "end": 3711,
          "referenceAllele": "G",
          "start": 3710
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.2:c.3607G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Gly1203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3063965921",
      "coordinates": [
        {
          "allele": "G",
          "end": 3710,
          "referenceAllele": "G",
          "start": 3709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.3:c.3607G="
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Gly1203="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662411",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.3607G="
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.3607G="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Gly1203="
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Gly1203="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}