{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA226553",
  "communityStandardTitle": [
    "NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=104760[alleleid]",
        "alleleId": 104760,
        "preferredName": "NM_000329.3(RPE65):c.444G>T (p.Glu148Asp)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/98870",
        "RCV": [
          "RCV000085200",
          "RCV001250685"
        ],
        "variationId": 98870
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68910265C>A?assembly=hg19",
        "id": "chr1:g.68910265C>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.68444582C>A?assembly=hg38",
        "id": "chr1:g.68444582C>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/61752882",
        "rs": 61752882
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68444582,
          "referenceAllele": "C",
          "start": 68444581
        }
      ],
      "hgvs": [
        "NC_000001.11:g.68444582C>A",
        "CM000663.2:g.68444582C>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68910265,
          "referenceAllele": "C",
          "start": 68910264
        }
      ],
      "hgvs": [
        "NC_000001.10:g.68910265C>A",
        "CM000663.1:g.68910265C>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "A",
          "end": 68682853,
          "referenceAllele": "C",
          "start": 68682852
        }
      ],
      "hgvs": [
        "NC_000001.9:g.68682853C>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10378,
          "referenceAllele": "G",
          "start": 10377
        }
      ],
      "hgvs": [
        "NG_008472.1:g.10378G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001112"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10378,
          "referenceAllele": "G",
          "start": 10377
        }
      ],
      "hgvs": [
        "NG_008472.2:g.10378G>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS673504"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.6:c.444G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Glu148Asp",
        "hgvsWellDefined": "ENSP00000262340.5:p.Glu148Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS742323",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.444G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.444G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Glu148Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Glu148Asp"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "ENST00000262340.5:c.444G>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000262340.5:p.Glu148Asp",
        "hgvsWellDefined": "ENSP00000262340.5:p.Glu148Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS250991"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092129",
      "coordinates": [
        {
          "allele": "T",
          "end": 498,
          "referenceAllele": "G",
          "start": 497
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.2:c.444G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Glu148Asp",
        "hgvsWellDefined": "NP_000320.1:p.Glu148Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006392"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 710,
          "referenceAllele": "G",
          "start": 709
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "XM_017002027.1:c.168G>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016857516.1:p.Glu56Asp",
        "hgvsWellDefined": "XP_016857516.1:p.Glu56Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS558066"
    },
    {
      "@id": "http://reg.genome.network/allele/PA092129",
      "coordinates": [
        {
          "allele": "T",
          "end": 493,
          "referenceAllele": "G",
          "start": 492
        }
      ],
      "gene": "http://reg.genome.network/gene/GN010294",
      "geneNCBI_id": 6121,
      "geneSymbol": "RPE65",
      "hgvs": [
        "NM_000329.3:c.444G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000320.1:p.Glu148Asp",
        "hgvsWellDefined": "NP_000320.1:p.Glu148Asp"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS662405",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000262340.6:c.444G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000329.3:c.444G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000262340.5:p.Glu148Asp"
          },
          "RefSeq": {
            "hgvs": "NP_000320.1:p.Glu148Asp"
          }
        }
      }
    }
  ],
  "type": "nucleotide"
}