{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA212890",
  "communityStandardTitle": [
    "NC_000003.12:g.46370771C>T"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=23229[alleleid]",
        "alleleId": 23229,
        "preferredName": "NM_000579.4(CCR5):c.-229C>T"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/8190",
        "RCV": [
          "RCV000008672",
          "RCV001777133"
        ],
        "variationId": 8190
      }
    ],
    "MyVariantInfo_hg19": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.46412262C>T?assembly=hg19",
        "id": "chr3:g.46412262C>T"
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr3:g.46370771C>T?assembly=hg38",
        "id": "chr3:g.46370771C>T"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/41469351",
        "rs": 41469351
      }
    ],
    "gnomAD_2": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46412262-C-T?dataset=gnomad_r2_1",
        "id": "3-46412262-C-T",
        "variant": "3:46412262 C / T"
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46370771-C-T?dataset=gnomad_r3",
        "id": "3-46370771-C-T",
        "variant": "3:46370771 C / T"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/3-46370771-C-T?dataset=gnomad_r4",
        "id": "3-46370771-C-T",
        "variant": "3:46370771 C / T"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 46370771,
          "referenceAllele": "C",
          "start": 46370770
        }
      ],
      "hgvs": [
        "NC_000003.12:g.46370771C>T",
        "CM000665.2:g.46370771C>T"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000051"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 46412262,
          "referenceAllele": "C",
          "start": 46412261
        }
      ],
      "hgvs": [
        "NC_000003.11:g.46412262C>T",
        "CM000665.1:g.46412262C>T"
      ],
      "referenceGenome": "GRCh37",
      "referenceSequence": "http://reg.genome.network/refseq/RS000027"
    },
    {
      "chromosome": "3",
      "coordinates": [
        {
          "allele": "T",
          "end": 46387266,
          "referenceAllele": "C",
          "start": 46387265
        }
      ],
      "hgvs": [
        "NC_000003.10:g.46387266C>T"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000003"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 5630,
          "referenceAllele": "C",
          "start": 5629
        }
      ],
      "hgvs": [
        "NG_012637.1:g.5630C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS002492"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "NM_000579.3:c.-229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000570.1:n.-229C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS006634"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57,
          "endIntronDirection": "-",
          "endIntronOffset": 163,
          "referenceAllele": "C",
          "start": 57,
          "startIntronDirection": "-",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "NM_001100168.1:c.-65-164C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093638.1:n.-65-164C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010857"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 565,
          "endIntronDirection": "+",
          "endIntronOffset": 473,
          "referenceAllele": "G",
          "start": 565,
          "startIntronDirection": "+",
          "startIntronOffset": 472
        }
      ],
      "gene": "http://reg.genome.network/gene/GN054398",
      "geneNCBI_id": 102724297,
      "geneSymbol": "CCR5AS",
      "hgvs": [
        "NR_125406.1:n.565+473G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS055825"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 129,
          "referenceAllele": "C",
          "start": 128
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "NM_000579.4:c.-229C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_000570.1:n.-229C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS710851"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 57,
          "endIntronDirection": "-",
          "endIntronOffset": 163,
          "referenceAllele": "C",
          "start": 57,
          "startIntronDirection": "-",
          "startIntronOffset": 164
        }
      ],
      "gene": "http://reg.genome.network/gene/GN001606",
      "geneNCBI_id": 1234,
      "geneSymbol": "CCR5",
      "hgvs": [
        "NM_001100168.2:c.-65-164C>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_001093638.1:n.-65-164C>T"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS711999"
    }
  ],
  "type": "nucleotide"
}