{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA172521",
  "communityStandardTitle": [
    "NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)"
  ],
  "externalRecords": {
    "COSMIC": [
      {
        "active": false,
        "id": "COSM3763373"
      }
    ],
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=34554[alleleid]",
        "alleleId": 34554,
        "preferredName": "NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/21702",
        "RCV": [
          "RCV000146305",
          "RCV001539339",
          "RCV000020900"
        ],
        "variationId": 21702
      }
    ],
    "ExAC": [
      {
        "@id": "http://exac.broadinstitute.org/variant/8-6479042-C-T",
        "id": "8-6479042-C-T",
        "variant": "8:6479042 C / T"
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.6479042C>T?assembly=hg19",
        "id": "chr8:g.6479042C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.6621521C>T?assembly=hg38",
        "id": "chr8:g.6621521C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/1057090",
        "rs": 1057090
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-6479042-C-T?dataset=gnomad_r2_1",
        "id": "8-6479042-C-T",
        "variant": "8:6479042 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-6621521-C-T?dataset=gnomad_r3",
        "id": "8-6621521-C-T",
        "variant": "8:6621521 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-6621521-C-T?dataset=gnomad_r4",
        "id": "8-6621521-C-T",
        "variant": "8:6621521 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 6621521,
          "referenceAllele": "C",
          "start": 6621520
        }
      ],
      "hgvs": [
        "NC_000008.11:g.6621521C>T",
        "CM000670.2:g.6621521C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 6479042,
          "referenceAllele": "C",
          "start": 6479041
        }
      ],
      "hgvs": [
        "NC_000008.10:g.6479042C>T",
        "CM000670.1:g.6479042C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 6466450,
          "referenceAllele": "C",
          "start": 6466449
        }
      ],
      "hgvs": [
        "NC_000008.9:g.6466450C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219930,
          "referenceAllele": "C",
          "start": 219929
        }
      ],
      "hgvs": [
        "NG_016619.1:g.219930C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS003232"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 219930,
          "referenceAllele": "C",
          "start": 219929
        }
      ],
      "hgvs": [
        "NG_016619.2:g.219930C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS616234"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 508,
          "referenceAllele": "C",
          "start": 507
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000519221.6:n.508C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825643"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 542,
          "referenceAllele": "C",
          "start": 541
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000521129.2:c.329C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509664.1:p.Ala110Val",
        "hgvsWellDefined": "ENSP00000509664.1:p.Ala110Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS825667"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1005,
          "referenceAllele": "C",
          "start": 1004
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000521175.2:n.1005C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS825668"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1220,
          "referenceAllele": "C",
          "start": 1219
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000687324.1:n.1220C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831032"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000687413.1:c.371C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510583.1:p.Ala124Val",
        "hgvsWellDefined": "ENSP00000510583.1:p.Ala124Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831071"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2413,
          "referenceAllele": "C",
          "start": 2412
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000687720.1:c.*2230C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510728.1:n.*2230C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831231"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2439,
          "referenceAllele": "C",
          "start": 2438
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000688101.1:c.2439C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS831442"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2321,
          "referenceAllele": "C",
          "start": 2320
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000688388.1:c.*271C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510092.1:n.*271C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS831600"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1242,
          "referenceAllele": "C",
          "start": 1241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000689148.1:n.1242C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS832018"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2323,
          "referenceAllele": "C",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000689348.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509554.1:p.Ala761Val",
        "hgvsWellDefined": "ENSP00000509554.1:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832124"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2024,
          "referenceAllele": "C",
          "start": 2023
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000689633.1:c.2003C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509054.1:p.Ala668Val",
        "hgvsWellDefined": "ENSP00000509054.1:p.Ala668Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832271"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 967,
          "referenceAllele": "C",
          "start": 966
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000689736.1:c.926C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509722.1:p.Ala309Val",
        "hgvsWellDefined": "ENSP00000509722.1:p.Ala309Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832335"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2944,
          "referenceAllele": "C",
          "start": 2943
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000690159.1:c.*2561C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510482.1:n.*2561C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832561"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1168,
          "referenceAllele": "C",
          "start": 1167
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000690708.1:c.1127C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510400.1:p.Ala376Val",
        "hgvsWellDefined": "ENSP00000510400.1:p.Ala376Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832839"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2354,
          "referenceAllele": "C",
          "start": 2353
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000690826.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510536.1:p.Ala761Val",
        "hgvsWellDefined": "ENSP00000510536.1:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS832896"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2296,
          "referenceAllele": "C",
          "start": 2295
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000692836.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509971.1:p.Ala761Val",
        "hgvsWellDefined": "ENSP00000509971.1:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833914"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2341,
          "referenceAllele": "C",
          "start": 2340
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000692938.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000509072.1:p.Ala761Val",
        "hgvsWellDefined": "ENSP00000509072.1:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS833967"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1871,
          "endIntronDirection": "-",
          "endIntronOffset": 21158,
          "referenceAllele": "C",
          "start": 1871,
          "startIntronDirection": "-",
          "startIntronOffset": 21159
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000693231.1:c.*1676-21159C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000510764.1:n.*1676-21159C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS834132"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2323,
          "referenceAllele": "C",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000344683.10:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342924.5:p.Ala761Val",
        "hgvsWellDefined": "ENSP00000342924.5:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS748239",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344683.10:c.2282C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024596.5:c.2282C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342924.5:p.Ala761Val"
          },
          "RefSeq": {
            "hgvs": "NP_078872.3:p.Ala761Val"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000344683.9:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000342924.5:p.Ala761Val",
        "hgvsWellDefined": "ENSP00000342924.5:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262029"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 389,
          "referenceAllele": "C",
          "start": 388
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000519221.5:n.389C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS346504"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 440,
          "referenceAllele": "C",
          "start": 439
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000521129.1:n.440C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348024"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 70,
          "referenceAllele": "C",
          "start": 69
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "ENST00000521175.1:n.70C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS348057"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172522",
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_024596.3:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078872.2:p.Ala761Val",
        "hgvsWellDefined": "NP_078872.2:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS037855"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 344,
          "referenceAllele": "G",
          "start": 343
        }
      ],
      "gene": "http://reg.genome.network/gene/GN051655",
      "geneNCBI_id": 100507530,
      "geneSymbol": "MCPH1-AS1",
      "hgvs": [
        "NR_125386.1:n.344G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055806"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2353,
          "referenceAllele": "C",
          "start": 2352
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534755.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533057.1:p.Ala761Val",
        "hgvsWellDefined": "XP_011533057.1:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101767"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1931,
          "referenceAllele": "C",
          "start": 1930
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534760.1:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533062.1:p.Ala586Val",
        "hgvsWellDefined": "XP_011533062.1:p.Ala586Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS101772"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001322042.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308971.1:p.Ala761Val",
        "hgvsWellDefined": "NP_001308971.1:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS514704"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828129096",
      "coordinates": [
        {
          "allele": "T",
          "end": 2323,
          "referenceAllele": "C",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001363979.1:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350908.1:p.Ala761Val",
        "hgvsWellDefined": "NP_001350908.1:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523672"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828129614",
      "coordinates": [
        {
          "allele": "T",
          "end": 2044,
          "referenceAllele": "C",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001363980.1:c.2003C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350909.1:p.Ala668Val",
        "hgvsWellDefined": "NP_001350909.1:p.Ala668Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS523673"
    },
    {
      "@id": "http://reg.genome.network/allele/PA172522",
      "coordinates": [
        {
          "allele": "T",
          "end": 2358,
          "referenceAllele": "C",
          "start": 2357
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_024596.4:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078872.2:p.Ala761Val",
        "hgvsWellDefined": "NP_078872.2:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS526162"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "referenceAllele": "C",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534755.3:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533057.1:p.Ala761Val",
        "hgvsWellDefined": "XP_011533057.1:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551746"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1934,
          "referenceAllele": "C",
          "start": 1933
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_011534760.2:c.1757C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_011533062.1:p.Ala586Val",
        "hgvsWellDefined": "XP_011533062.1:p.Ala586Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS551751"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2330,
          "referenceAllele": "C",
          "start": 2329
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_017013829.2:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869318.1:p.Ala761Val",
        "hgvsWellDefined": "XP_016869318.1:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566978"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2129,
          "referenceAllele": "C",
          "start": 2128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_017013831.2:c.2081C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869320.1:p.Ala694Val",
        "hgvsWellDefined": "XP_016869320.1:p.Ala694Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566979"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2051,
          "referenceAllele": "C",
          "start": 2050
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_017013832.2:c.2003C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869321.1:p.Ala668Val",
        "hgvsWellDefined": "XP_016869321.1:p.Ala668Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566980"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2267,
          "endIntronDirection": "-",
          "endIntronOffset": 21472,
          "referenceAllele": "C",
          "start": 2267,
          "startIntronDirection": "-",
          "startIntronOffset": 21473
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XM_017013833.2:c.2215-21473C>T"
      ],
      "proteinEffect": {
        "hgvs": "XP_016869322.1:n.2215-21473C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS566981"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2335,
          "referenceAllele": "C",
          "start": 2334
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "XR_001745596.2:n.2335C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS594087"
    },
    {
      "@id": "http://reg.genome.network/allele/PA916077633",
      "coordinates": [
        {
          "allele": "T",
          "end": 2323,
          "referenceAllele": "C",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_024596.5:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_078872.3:p.Ala761Val",
        "hgvsWellDefined": "NP_078872.3:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS670700",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000344683.10:c.2282C>T"
          },
          "RefSeq": {
            "hgvs": "NM_024596.5:c.2282C>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000342924.5:p.Ala761Val"
          },
          "RefSeq": {
            "hgvs": "NP_078872.3:p.Ala761Val"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2827140800",
      "coordinates": [
        {
          "allele": "T",
          "end": 2323,
          "referenceAllele": "C",
          "start": 2322
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001322042.2:c.2282C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001308971.2:p.Ala761Val",
        "hgvsWellDefined": "NP_001308971.2:p.Ala761Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS685635"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2828129614",
      "coordinates": [
        {
          "allele": "T",
          "end": 2044,
          "referenceAllele": "C",
          "start": 2043
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006954",
      "geneNCBI_id": 79648,
      "geneSymbol": "MCPH1",
      "hgvs": [
        "NM_001363980.2:c.2003C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001350909.1:p.Ala668Val",
        "hgvsWellDefined": "NP_001350909.1:p.Ala668Val"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS690799"
    }
  ],
  "type": "nucleotide"
}