{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA2274963901",
  "communityStandardTitle": [
    "NM_023036.6(DNAI2):c.1516C= (p.Arg506=)"
  ],
  "externalRecords": {
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/141581673",
        "rs": 141581673
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 74312024,
          "referenceAllele": "C",
          "start": 74312023
        }
      ],
      "hgvs": [
        "NC_000017.11:g.74312024C=",
        "CM000679.2:g.74312024C="
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000065"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 72308163,
          "referenceAllele": "C",
          "start": 72308162
        }
      ],
      "hgvs": [
        "NC_000017.10:g.72308163C=",
        "CM000679.1:g.72308163C="
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000041"
    },
    {
      "chromosome": "17",
      "coordinates": [
        {
          "allele": "C",
          "end": 69819758,
          "referenceAllele": "C",
          "start": 69819757
        }
      ],
      "hgvs": [
        "NC_000017.9:g.69819758C="
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000017"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 42778,
          "referenceAllele": "C",
          "start": 42777
        }
      ],
      "hgvs": [
        "NG_016865.1:g.42778C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003325"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1639,
          "referenceAllele": "C",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000311014.11:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308312.6:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS745679",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311014.11:c.1516C="
          },
          "RefSeq": {
            "hgvs": "NM_023036.6:c.1516C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308312.6:p.Arg506="
          },
          "RefSeq": {
            "hgvs": "NP_075462.3:p.Arg506="
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1583,
          "referenceAllele": "C",
          "start": 1582
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000311014.10:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000308312.6:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS256452"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1822,
          "referenceAllele": "C",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000446837.2:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000400252.2:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS298928"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1495,
          "referenceAllele": "C",
          "start": 1494
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000579055.5:c.*887C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000462767.1:n.*887C="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385662"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1822,
          "referenceAllele": "C",
          "start": 1821
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000579490.5:c.1687C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000464197.1:p.Arg563="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS385874"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "ENST00000582036.5:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000461950.1:p.Arg494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS387075"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826082342",
      "coordinates": [
        {
          "allele": "C",
          "end": 1587,
          "referenceAllele": "C",
          "start": 1586
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.1:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Arg494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS015562"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830014598",
      "coordinates": [
        {
          "allele": "C",
          "end": 1626,
          "referenceAllele": "C",
          "start": 1625
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.4:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037548"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_011525125.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523427.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS092244"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1602,
          "referenceAllele": "C",
          "start": 1601
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_429915.2:n.1602C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118524"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1616,
          "endIntronDirection": "+",
          "endIntronOffset": 1861,
          "referenceAllele": "C",
          "start": 1616,
          "startIntronDirection": "+",
          "startIntronOffset": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_429916.2:n.1616+1861C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118525"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934518.1:n.1640C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129827"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1637,
          "referenceAllele": "C",
          "start": 1636
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934519.1:n.1637C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129828"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1713,
          "referenceAllele": "C",
          "start": 1712
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934520.1:n.1713C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129829"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1625,
          "referenceAllele": "C",
          "start": 1624
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934521.1:n.1625C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129830"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934522.1:n.1613C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129831"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1622,
          "referenceAllele": "C",
          "start": 1621
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934523.1:n.1622C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129832"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934524.1:n.1640C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129833"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1604,
          "referenceAllele": "C",
          "start": 1603
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934525.1:n.1604C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129834"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1526,
          "referenceAllele": "C",
          "start": 1525
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934526.1:n.1526C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129835"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1638,
          "referenceAllele": "C",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934527.1:n.1638C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129836"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1638,
          "referenceAllele": "C",
          "start": 1637
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934528.1:n.1638C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129837"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1519,
          "referenceAllele": "C",
          "start": 1518
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934529.1:n.1519C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129838"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1592,
          "referenceAllele": "C",
          "start": 1591
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934530.1:n.1592C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129839"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1518,
          "referenceAllele": "C",
          "start": 1517
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XR_934531.1:n.1518C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS129840"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826082342",
      "coordinates": [
        {
          "allele": "C",
          "end": 1624,
          "referenceAllele": "C",
          "start": 1623
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.2:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Arg494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS511728"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712324",
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001353167.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001340096.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS521519"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830014598",
      "coordinates": [
        {
          "allele": "C",
          "end": 1663,
          "referenceAllele": "C",
          "start": 1662
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.5:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526119"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1541,
          "referenceAllele": "C",
          "start": 1540
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NR_148379.1:n.1541C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS531117"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_011525125.2:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_011523427.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS547748"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1640,
          "referenceAllele": "C",
          "start": 1639
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450874.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306642.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584403"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1716,
          "referenceAllele": "C",
          "start": 1715
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450875.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306643.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584404"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1608,
          "referenceAllele": "C",
          "start": 1607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450876.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306644.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584405"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1613,
          "referenceAllele": "C",
          "start": 1612
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450877.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306645.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584406"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1593,
          "referenceAllele": "C",
          "start": 1592
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450878.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306646.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584407"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1643,
          "referenceAllele": "C",
          "start": 1642
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450879.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306647.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584408"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1607,
          "referenceAllele": "C",
          "start": 1606
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450880.1:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306648.1:p.Arg494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584409"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1529,
          "referenceAllele": "C",
          "start": 1528
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450881.1:c.1402C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306649.1:p.Arg468="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584410"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1605,
          "referenceAllele": "C",
          "start": 1604
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450882.1:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306650.1:p.Arg494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584411"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450883.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306651.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584412"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1641,
          "referenceAllele": "C",
          "start": 1640
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450884.1:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306652.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584413"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1522,
          "referenceAllele": "C",
          "start": 1521
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450885.1:c.1087C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306653.1:p.Arg363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584414"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1595,
          "referenceAllele": "C",
          "start": 1594
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "XM_024450886.1:c.1087C="
      ],
      "proteinEffect": {
        "hgvs": "XP_024306654.1:p.Arg363="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS584415"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830014598",
      "coordinates": [
        {
          "allele": "C",
          "end": 1639,
          "referenceAllele": "C",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_023036.6:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "NP_075462.3:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670544",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000311014.11:c.1516C="
          },
          "RefSeq": {
            "hgvs": "NM_023036.6:c.1516C="
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000308312.6:p.Arg506="
          },
          "RefSeq": {
            "hgvs": "NP_075462.3:p.Arg506="
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2826082342",
      "coordinates": [
        {
          "allele": "C",
          "end": 1600,
          "referenceAllele": "C",
          "start": 1599
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001172810.3:c.1480C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001166281.1:p.Arg494="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678795"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827712324",
      "coordinates": [
        {
          "allele": "C",
          "end": 1639,
          "referenceAllele": "C",
          "start": 1638
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NM_001353167.2:c.1516C="
      ],
      "proteinEffect": {
        "hgvs": "NP_001340096.1:p.Arg506="
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS689609"
    },
    {
      "coordinates": [
        {
          "allele": "C",
          "end": 1517,
          "referenceAllele": "C",
          "start": 1516
        }
      ],
      "gene": "http://reg.genome.network/gene/GN018744",
      "geneNCBI_id": 64446,
      "geneSymbol": "DNAI2",
      "hgvs": [
        "NR_148379.2:n.1517C="
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS704721"
    }
  ],
  "type": "nucleotide"
}