{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA341283766",
  "communityStandardTitle": [
    "NM_000350.3(ABCA4):c.4771G>C (p.Gly1591Arg)"
  ],
  "externalRecords": {
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.94487404C>G?assembly=hg19",
        "id": "chr1:g.94487404C>G"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.94021848C>G?assembly=hg38",
        "id": "chr1:g.94021848C>G"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 94021848,
          "referenceAllele": "C",
          "start": 94021847
        }
      ],
      "hgvs": [
        "NC_000001.11:g.94021848C>G",
        "CM000663.2:g.94021848C>G"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 94487404,
          "referenceAllele": "C",
          "start": 94487403
        }
      ],
      "hgvs": [
        "NC_000001.10:g.94487404C>G",
        "CM000663.1:g.94487404C>G"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "G",
          "end": 94259992,
          "referenceAllele": "C",
          "start": 94259991
        }
      ],
      "hgvs": [
        "NC_000001.9:g.94259992C>G"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 104302,
          "referenceAllele": "G",
          "start": 104301
        }
      ],
      "hgvs": [
        "NG_009073.1:g.104302G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001411"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4874,
          "referenceAllele": "G",
          "start": 4873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.4:c.4771G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Gly1591Arg",
        "hgvsWellDefined": "ENSP00000359245.3:p.Gly1591Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750567",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.4771G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.4771G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Gly1591Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Gly1591Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 4858,
          "referenceAllele": "G",
          "start": 4857
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.3:c.4771G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Gly1591Arg",
        "hgvsWellDefined": "ENSP00000359245.3:p.Gly1591Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267946"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 265,
          "referenceAllele": "G",
          "start": 264
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000460514.1:n.265G>C"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS305233"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1287,
          "referenceAllele": "G",
          "start": 1286
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000536513.5:c.1147G>C"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439707.2:p.Gly383Arg",
        "hgvsWellDefined": "ENSP00000439707.2:p.Gly383Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360296"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233404",
      "coordinates": [
        {
          "allele": "C",
          "end": 4875,
          "referenceAllele": "G",
          "start": 4874
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.2:c.4771G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Gly1591Arg",
        "hgvsWellDefined": "NP_000341.2:p.Gly1591Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA233404",
      "coordinates": [
        {
          "allele": "C",
          "end": 4874,
          "referenceAllele": "G",
          "start": 4873
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.3:c.4771G>C"
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Gly1591Arg",
        "hgvsWellDefined": "NP_000341.2:p.Gly1591Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662411",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.4771G>C"
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.4771G>C"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Gly1591Arg"
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Gly1591Arg"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}