{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA236376",
  "communityStandardTitle": [
    "NM_201253.3(CRB1):c.2330_2336del (p.Pro777LeufsTer4)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=189067[alleleid]",
        "alleleId": 189067,
        "preferredName": "NM_201253.3(CRB1):c.2330_2336del (p.Pro777fs)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/191264",
        "RCV": [
          "RCV000171454",
          "RCV001257865"
        ],
        "variationId": 191264
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197396781_197396787del?assembly=hg19",
        "id": "chr1:g.197396781_197396787del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr1:g.197427651_197427657del?assembly=hg38",
        "id": "chr1:g.197427651_197427657del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/786205610",
        "rs": 786205610
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 197427661,
          "referenceAllele": "CAAACTC",
          "start": 197427654
        }
      ],
      "hgvs": [
        "NC_000001.11:g.197427655_197427661del",
        "CM000663.2:g.197427655_197427661del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000049"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 197396791,
          "referenceAllele": "CAAACTC",
          "start": 197396784
        }
      ],
      "hgvs": [
        "NC_000001.10:g.197396785_197396791del",
        "CM000663.1:g.197396785_197396791del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000025"
    },
    {
      "chromosome": "1",
      "coordinates": [
        {
          "allele": "",
          "end": 195663414,
          "referenceAllele": "CAAACTC",
          "start": 195663407
        }
      ],
      "hgvs": [
        "NC_000001.9:g.195663408_195663414del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000001"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 164384,
          "referenceAllele": "CAAACTC",
          "start": 164377
        }
      ],
      "hgvs": [
        "NG_008483.1:g.164378_164384del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001118"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 231200,
          "referenceAllele": "CAAACTC",
          "start": 231193
        }
      ],
      "hgvs": [
        "NG_008483.2:g.231194_231200del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616106"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2497,
          "referenceAllele": "CAAACTC",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.8:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Pro777LeufsTer4",
        "hgvsWellDefined": "ENSP00000356370.3:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS750000",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.2330_2336del"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.2330_2336del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Pro777LeufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Pro777LeufsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2471,
          "referenceAllele": "CAAACTC",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000638467.1:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000491102.1:p.Pro777LeufsTer4",
        "hgvsWellDefined": "ENSP00000491102.1:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS764542"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1317,
          "referenceAllele": "CAAACTC",
          "start": 1310
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000681519.1:c.1211_1217del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000505267.1:p.Pro404LeufsTer4",
        "hgvsWellDefined": "ENSP00000505267.1:p.[Pro404_Ser406delinsLeu;Lys408_Leu415del;Asp417_Tyr435del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS781125"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1337,
          "referenceAllele": "CAAACTC",
          "start": 1330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367397.1:c.473_479del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356367.1:p.Pro158LeufsTer4",
        "hgvsWellDefined": "ENSP00000356367.1:p.[Pro158_Ser160delinsLeu;Lys162_Leu169del;Asp171_Tyr189del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266364"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2000,
          "referenceAllele": "CAAACTC",
          "start": 1993
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367399.6:c.1994_2000del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356369.2:p.Pro665LeufsTer4",
        "hgvsWellDefined": "ENSP00000356369.2:p.[Pro665_Ser667delinsLeu;Lys669_Leu676del;Asp678_Tyr696del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266365"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2471,
          "referenceAllele": "CAAACTC",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000367400.7:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000356370.3:p.Pro777LeufsTer4",
        "hgvsWellDefined": "ENSP00000356370.3:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS266366"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 237,
          "referenceAllele": "CAAACTC",
          "start": 230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000480086.2:n.231_237del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS320322"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2471,
          "referenceAllele": "CAAACTC",
          "start": 2464
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000484075.5:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000433932.1:p.Pro777LeufsTer4",
        "hgvsWellDefined": "ENSP00000433932.1:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS323413"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2545,
          "referenceAllele": "CAAACTC",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000535699.5:c.2123_2129del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438786.1:p.Pro708LeufsTer4",
        "hgvsWellDefined": "ENSP00000438786.1:p.[Pro708_Ser710delinsLeu;Lys712_Leu719del;Asp721_Tyr739del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS359878"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2337,
          "endIntronDirection": "+",
          "endIntronOffset": 5705,
          "referenceAllele": "CAAACTC",
          "start": 2337,
          "startIntronDirection": "+",
          "startIntronOffset": 5698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "ENST00000538660.5:c.2128+5699_2128+5705del"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000438091.1:n.2128+5699_2128+5705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS361440"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2209,
          "referenceAllele": "CAAACTC",
          "start": 2202
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.1:c.1994_2000del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Pro665LeufsTer4",
        "hgvsWellDefined": "NP_001180569.1:p.[Pro665_Ser667delinsLeu;Lys669_Leu676del;Asp678_Tyr696del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS016470"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2468,
          "referenceAllele": "CAAACTC",
          "start": 2461
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.1:c.2123_2129del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Pro708LeufsTer4",
        "hgvsWellDefined": "NP_001244894.1:p.[Pro708_Ser710delinsLeu;Lys712_Leu719del;Asp721_Tyr739del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019649"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2337,
          "endIntronDirection": "+",
          "endIntronOffset": 5705,
          "referenceAllele": "CAAACTC",
          "start": 2337,
          "startIntronDirection": "+",
          "startIntronOffset": 5698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.1:c.2128+5699_2128+5705del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:n.2128+5699_2128+5705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS019650"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2545,
          "referenceAllele": "CAAACTC",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.2:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Pro777LeufsTer4",
        "hgvsWellDefined": "NP_957705.1:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS044977"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2337,
          "referenceAllele": "CAAACTC",
          "start": 2330
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.1:n.2331_2337del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052002"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2545,
          "referenceAllele": "CAAACTC",
          "start": 2538
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.1:n.2539_2545del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS052003"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2470,
          "referenceAllele": "CAAACTC",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.1:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Pro777LeufsTer4",
        "hgvsWellDefined": "XP_011507667.1:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076633"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2470,
          "referenceAllele": "CAAACTC",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509366.1:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507668.1:p.Pro777LeufsTer4",
        "hgvsWellDefined": "XP_011507668.1:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076634"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2470,
          "referenceAllele": "CAAACTC",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509367.1:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507669.1:p.Pro777LeufsTer4",
        "hgvsWellDefined": "XP_011507669.1:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076635"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1919,
          "referenceAllele": "CAAACTC",
          "start": 1912
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509368.1:c.1748_1754del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507670.1:p.Pro583LeufsTer4",
        "hgvsWellDefined": "XP_011507670.1:p.[Pro583_Ser585delinsLeu;Lys587_Leu594del;Asp596_Tyr614del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076636"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1452,
          "referenceAllele": "CAAACTC",
          "start": 1445
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.1:c.773_779del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Pro258LeufsTer4",
        "hgvsWellDefined": "XP_011507671.1:p.[Pro258_Ser260delinsLeu;Lys262_Leu269del;Asp271_Tyr289del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS076637"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2470,
          "referenceAllele": "CAAACTC",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509365.2:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507667.1:p.Pro777LeufsTer4",
        "hgvsWellDefined": "XP_011507667.1:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541251"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1258,
          "referenceAllele": "CAAACTC",
          "start": 1251
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_011509369.2:c.773_779del"
      ],
      "proteinEffect": {
        "hgvs": "XP_011507671.1:p.Pro258LeufsTer4",
        "hgvsWellDefined": "XP_011507671.1:p.[Pro258_Ser260delinsLeu;Lys262_Leu269del;Asp271_Tyr289del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS541252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2237,
          "referenceAllele": "CAAACTC",
          "start": 2230
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000851.1:c.1487_1493del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856340.1:p.Pro496LeufsTer4",
        "hgvsWellDefined": "XP_016856340.1:p.[Pro496_Ser498delinsLeu;Lys500_Leu507del;Asp509_Tyr527del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557131"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2470,
          "referenceAllele": "CAAACTC",
          "start": 2463
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "XM_017000852.1:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016856341.1:p.Pro777LeufsTer4",
        "hgvsWellDefined": "XP_016856341.1:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS557132"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2497,
          "referenceAllele": "CAAACTC",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_201253.3:c.2330_2336del"
      ],
      "proteinEffect": {
        "hgvs": "NP_957705.1:p.Pro777LeufsTer4",
        "hgvsWellDefined": "NP_957705.1:p.[Pro777_Ser779delinsLeu;Lys781_Leu788del;Asp790_Tyr808del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS673211",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000367400.8:c.2330_2336del"
          },
          "RefSeq": {
            "hgvs": "NM_201253.3:c.2330_2336del"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000356370.3:p.Pro777LeufsTer4"
          },
          "RefSeq": {
            "hgvs": "NP_957705.1:p.Pro777LeufsTer4"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2161,
          "referenceAllele": "CAAACTC",
          "start": 2154
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001193640.2:c.1994_2000del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001180569.1:p.Pro665LeufsTer4",
        "hgvsWellDefined": "NP_001180569.1:p.[Pro665_Ser667delinsLeu;Lys669_Leu676del;Asp678_Tyr696del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS679252"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2426,
          "referenceAllele": "CAAACTC",
          "start": 2419
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257965.2:c.2123_2129del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244894.1:p.Pro708LeufsTer4",
        "hgvsWellDefined": "NP_001244894.1:p.[Pro708_Ser710delinsLeu;Lys712_Leu719del;Asp721_Tyr739del]"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS680747"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2289,
          "referenceAllele": "CAAACTC",
          "start": 2282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047563.2:n.2283_2289del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702513"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2497,
          "referenceAllele": "CAAACTC",
          "start": 2490
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NR_047564.2:n.2491_2497del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS702514"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 2289,
          "endIntronDirection": "+",
          "endIntronOffset": 5705,
          "referenceAllele": "CAAACTC",
          "start": 2289,
          "startIntronDirection": "+",
          "startIntronOffset": 5698
        }
      ],
      "gene": "http://reg.genome.network/gene/GN002343",
      "geneNCBI_id": 23418,
      "geneSymbol": "CRB1",
      "hgvs": [
        "NM_001257966.2:c.2128+5699_2128+5705del"
      ],
      "proteinEffect": {
        "hgvs": "NP_001244895.1:n.2128+5699_2128+5705del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS714892"
    }
  ],
  "type": "nucleotide"
}