{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA10581694",
  "communityStandardTitle": [
    "NC_000014.9:g.67727180_67727210del"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=238070[alleleid]",
        "alleleId": 238070,
        "preferredName": "NM_152443.3(RDH12):c.648_658+20del"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/236434",
        "RCV": [
          "RCV000225678",
          "RCV001377427"
        ],
        "variationId": 236434
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.68193897_68193927del?assembly=hg19",
        "id": "chr14:g.68193897_68193927del"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr14:g.67727180_67727210del?assembly=hg38",
        "id": "chr14:g.67727180_67727210del"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/878853341",
        "rs": 878853341
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 67727210,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 67727179
        }
      ],
      "hgvs": [
        "NC_000014.9:g.67727180_67727210del",
        "CM000676.2:g.67727180_67727210del"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000062"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 68193927,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 68193896
        }
      ],
      "hgvs": [
        "NC_000014.8:g.68193897_68193927del",
        "CM000676.1:g.68193897_68193927del"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000038"
    },
    {
      "chromosome": "14",
      "coordinates": [
        {
          "allele": "",
          "end": 67263680,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 67263649
        }
      ],
      "hgvs": [
        "NC_000014.7:g.67263650_67263680del"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000014"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 30325,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 30294
        }
      ],
      "hgvs": [
        "NG_008321.1:g.30295_30325del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS001028"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000551171.6:c.648_658+20del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS759994"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 938,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 927
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000267502.3:c.648_658+20del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS251998"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000551171.5:c.648_658+20del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS368503"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 27,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 16
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "ENST00000552873.1:n.17_27+20del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS369495"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "NM_152443.2:c.648_658+20del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS041888"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 1872,
          "endIntronDirection": "-",
          "endIntronOffset": 7984,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 1872,
          "startIntronDirection": "-",
          "startIntronOffset": 8015
        }
      ],
      "gene": "http://reg.genome.network/gene/GN015465",
      "geneNCBI_id": 10243,
      "geneSymbol": "GPHN",
      "hgvs": [
        "XM_017020925.2:c.1313-8015_1313-7985del"
      ],
      "proteinEffect": {
        "hgvs": "XP_016876414.1:n.1313-8015_1313-7985del"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS572274"
    },
    {
      "coordinates": [
        {
          "allele": "",
          "end": 982,
          "endIntronDirection": "+",
          "endIntronOffset": 20,
          "referenceAllele": "GAGGCTCCAAGGTAAGTCTGGAGAAAGAGGA",
          "start": 971
        }
      ],
      "gene": "http://reg.genome.network/gene/GN019977",
      "geneNCBI_id": 145226,
      "geneSymbol": "RDH12",
      "hgvs": [
        "NM_152443.3:c.648_658+20del"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS700179"
    }
  ],
  "type": "nucleotide"
}