{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA204469",
  "communityStandardTitle": [
    "NC_000008.11:g.42850904C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=205015[alleleid]",
        "alleleId": 205015,
        "preferredName": "NM_001160224.2(RNF170):c.490G>A (p.Gly164Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/208491",
        "RCV": [
          "RCV000190504"
        ],
        "variationId": 208491
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.42706047C>T?assembly=hg19",
        "id": "chr8:g.42706047C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr8:g.42850904C>T?assembly=hg38",
        "id": "chr8:g.42850904C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/797045006",
        "rs": 797045006
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-42850904-C-T?dataset=gnomad_r3",
        "id": "8-42850904-C-T",
        "variant": "8:42850904 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/8-42850904-C-T?dataset=gnomad_r4",
        "id": "8-42850904-C-T",
        "variant": "8:42850904 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 42850904,
          "referenceAllele": "C",
          "start": 42850903
        }
      ],
      "hgvs": [
        "NC_000008.11:g.42850904C>T",
        "CM000670.2:g.42850904C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000056"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 42706047,
          "referenceAllele": "C",
          "start": 42706046
        }
      ],
      "hgvs": [
        "NC_000008.10:g.42706047C>T",
        "CM000670.1:g.42706047C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000032"
    },
    {
      "chromosome": "8",
      "coordinates": [
        {
          "allele": "T",
          "end": 42825204,
          "referenceAllele": "C",
          "start": 42825203
        }
      ],
      "hgvs": [
        "NC_000008.9:g.42825204C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000008"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 50820,
          "referenceAllele": "G",
          "start": 50819
        }
      ],
      "hgvs": [
        "NG_032868.1:g.50820G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS005243"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 599,
          "referenceAllele": "G",
          "start": 598
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025358",
      "geneNCBI_id": 81790,
      "geneSymbol": "RNF170",
      "hgvs": [
        "ENST00000319104.7:c.490G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000326138.3:p.Gly164Arg",
        "hgvsWellDefined": "ENSP00000326138.3:p.Gly164Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS257619"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204470",
      "coordinates": [
        {
          "allele": "A",
          "end": 737,
          "referenceAllele": "G",
          "start": 736
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025358",
      "geneNCBI_id": 81790,
      "geneSymbol": "RNF170",
      "hgvs": [
        "NM_001160224.1:c.490G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153696.1:p.Gly164Arg",
        "hgvsWellDefined": "NP_001153696.1:p.Gly164Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS014155"
    },
    {
      "@id": "http://reg.genome.network/allele/PA204470",
      "coordinates": [
        {
          "allele": "A",
          "end": 619,
          "referenceAllele": "G",
          "start": 618
        }
      ],
      "gene": "http://reg.genome.network/gene/GN025358",
      "geneNCBI_id": 81790,
      "geneSymbol": "RNF170",
      "hgvs": [
        "NM_001160224.2:c.490G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001153696.1:p.Gly164Arg",
        "hgvsWellDefined": "NP_001153696.1:p.Gly164Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS678136"
    }
  ],
  "type": "nucleotide"
}