{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA1181402880",
  "communityStandardTitle": [
    "NM_000350.3(ABCA4):c.5932A= (p.Lys1978=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1064793014",
        "rs": 1064793014
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 94007707,
          "referenceAllele": "T",
          "start": 94007706
        }
      ],
      "hgvs": [
        "NC_000001.11:g.94007707T=",
        "CM000663.2:g.94007707T="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 94473263,
          "referenceAllele": "T",
          "start": 94473262
        }
      ],
      "hgvs": [
        "NC_000001.10:g.94473263T=",
        "CM000663.1:g.94473263T="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "T",
          "end": 94245851,
          "referenceAllele": "T",
          "start": 94245850
        }
      ],
      "hgvs": [
        "NC_000001.9:g.94245851T="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 118443,
          "referenceAllele": "A",
          "start": 118442
        }
      ],
      "hgvs": [
        "NG_009073.1:g.118443A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001411"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6035,
          "referenceAllele": "A",
          "start": 6034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.4:c.5932A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Lys1978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750567",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.5932A="
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.5932A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Lys1978="
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Lys1978="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 6019,
          "referenceAllele": "A",
          "start": 6018
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000370225.3:c.5932A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000359245.3:p.Lys1978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS267946"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 348,
          "referenceAllele": "A",
          "start": 347
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000465352.1:n.348A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS308974"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 46,
          "referenceAllele": "A",
          "start": 45
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000484388.1:n.46A="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS323652"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 2448,
          "referenceAllele": "A",
          "start": 2447
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "ENST00000536513.5:c.2308A="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000439707.2:p.Lys770="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS360296"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933528",
      "coordinates": [
        {
          "allele": "A",
          "end": 6036,
          "referenceAllele": "A",
          "start": 6035
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.2:c.5932A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Lys1978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006413"
    },
    {
      "@id": "http://reg.genome.network/allele/PA3064933528",
      "coordinates": [
        {
          "allele": "A",
          "end": 6035,
          "referenceAllele": "A",
          "start": 6034
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000034",
      "geneNCBI_id": 24,
      "geneSymbol": "ABCA4",
      "hgvs": [
        "NM_000350.3:c.5932A="
      ],
      "proteinEffect": {
        "hgvs": "NP_000341.2:p.Lys1978="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662411",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000370225.4:c.5932A="
          },
          "RefSeq": {
            "hgvs": "NM_000350.3:c.5932A="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000359245.3:p.Lys1978="
          },
          "RefSeq": {
            "hgvs": "NP_000341.2:p.Lys1978="
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}