{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA268659635",
  "communityStandardTitle": [
    "NC_000015.10:g.34789928G>A"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=873283[alleleid]",
        "alleleId": 873283,
        "preferredName": "NM_005159.4(ACTC1):c.*484C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/886940",
        "RCV": [
          "RCV001119397",
          "RCV001119398"
        ],
        "variationId": 886940
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.35082129G>A?assembly=hg19",
        "id": "chr15:g.35082129G>A"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr15:g.34789928G>A?assembly=hg38",
        "id": "chr15:g.34789928G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/563713498",
        "rs": 563713498
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-35082129-G-A?dataset=gnomad_r2_1",
        "id": "15-35082129-G-A",
        "variant": "15:35082129 G / A"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34789928-G-A?dataset=gnomad_r3",
        "id": "15-34789928-G-A",
        "variant": "15:34789928 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/15-34789928-G-A?dataset=gnomad_r4",
        "id": "15-34789928-G-A",
        "variant": "15:34789928 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 34789928,
          "referenceAllele": "G",
          "start": 34789927
        }
      ],
      "hgvs": [
        "NC_000015.10:g.34789928G>A",
        "CM000677.2:g.34789928G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000063"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 35082129,
          "referenceAllele": "G",
          "start": 35082128
        }
      ],
      "hgvs": [
        "NC_000015.9:g.35082129G>A",
        "CM000677.1:g.35082129G>A"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000039"
    },
    {
      "chromosome": "15",
      "coordinates": [
        {
          "allele": "A",
          "end": 32869421,
          "referenceAllele": "G",
          "start": 32869420
        }
      ],
      "hgvs": [
        "NC_000015.8:g.32869421G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000015"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 10799,
          "referenceAllele": "C",
          "start": 10798
        }
      ],
      "hgvs": [
        "NG_007553.1:g.10799C>T",
        "LRG_388:g.10799C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS000643"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 2274,
          "referenceAllele": "C",
          "start": 2273
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000143",
      "geneNCBI_id": 70,
      "geneSymbol": "ACTC1",
      "hgvs": [
        "ENST00000290378.4:c.*484C>T"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000290378.4:n.*484C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS247123"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 1861,
          "referenceAllele": "C",
          "start": 1860
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000143",
      "geneNCBI_id": 70,
      "geneSymbol": "ACTC1",
      "hgvs": [
        "NM_005159.4:c.*484C>T",
        "LRG_388t1:c.*484C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_005150.1:n.*484C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS030277"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 299,
          "endIntronDirection": "+",
          "endIntronOffset": 12497,
          "referenceAllele": "G",
          "start": 299,
          "startIntronDirection": "+",
          "startIntronOffset": 12496
        }
      ],
      "gene": "http://reg.genome.network/gene/GN055560",
      "geneNCBI_id": 101928174,
      "geneSymbol": "GJD2-DT",
      "hgvs": [
        "NR_120329.1:n.299+12497G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055225"
    }
  ],
  "type": "nucleotide"
}