{
  "@context": "http://reg.genome.network/schema/allele.jsonld",
  "@id": "http://reg.genome.network/allele/CA309908531",
  "communityStandardTitle": [
    "NM_001080770.2(KIR2DL4):c.568G>A (p.Gly190Arg)"
  ],
  "externalRecords": {
    "ClinVarAlleles": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2338691[alleleid]",
        "alleleId": 2338691,
        "preferredName": "NM_001080770.2(KIR2DL4):c.568G>A (p.Gly190Arg)"
      }
    ],
    "ClinVarVariations": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2346745",
        "RCV": [
          "RCV004182266"
        ],
        "variationId": 2346745
      }
    ],
    "MyVariantInfo_hg38": [
      {
        "@id": "http://myvariant.info/v1/variant/chr19:g.54806157G>A?assembly=hg38",
        "id": "chr19:g.54806157G>A"
      }
    ],
    "dbSNP": [
      {
        "@id": "http://www.ncbi.nlm.nih.gov/snp/762659354",
        "rs": 762659354
      }
    ],
    "gnomAD_3": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-54806157-G-A?dataset=gnomad_r3",
        "id": "19-54806157-G-A",
        "variant": "19:54806157 G / A"
      }
    ],
    "gnomAD_4": [
      {
        "@id": "http://gnomad.broadinstitute.org/variant/19-54806157-G-A?dataset=gnomad_r4",
        "id": "19-54806157-G-A",
        "variant": "19:54806157 G / A"
      }
    ]
  },
  "genomicAlleles": [
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 54806157,
          "referenceAllele": "G",
          "start": 54806156
        }
      ],
      "hgvs": [
        "NC_000019.10:g.54806157G>A",
        "CM000681.2:g.54806157G>A"
      ],
      "referenceGenome": "GRCh38",
      "referenceSequence": "http://reg.genome.network/refseq/RS000067"
    },
    {
      "chromosome": "19",
      "coordinates": [
        {
          "allele": "A",
          "end": 60009424,
          "referenceAllele": "G",
          "start": 60009423
        }
      ],
      "hgvs": [
        "NC_000019.8:g.60009424G>A"
      ],
      "referenceGenome": "NCBI36",
      "referenceSequence": "http://reg.genome.network/refseq/RS000019"
    }
  ],
  "transcriptAlleles": [
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000345540.10:c.568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339634.5:p.Gly190Arg",
        "hgvsWellDefined": "ENSP00000339634.5:p.Gly190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS904433",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345540.10:c.568G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001080770.2:c.568G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339634.5:p.Gly190Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001074239.1:p.Gly190Arg"
          }
        }
      }
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000345540.9:c.568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000339634.5:p.Gly190Arg",
        "hgvsWellDefined": "ENSP00000339634.5:p.Gly190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262181"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 283,
          "referenceAllele": "G",
          "start": 282
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000346587.8:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000345331.4:p.Gly95Arg",
        "hgvsWellDefined": "ENSP00000345331.4:p.Gly95Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS262279"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000357494.8:c.568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000350088.4:p.Gly190Arg",
        "hgvsWellDefined": "ENSP00000350088.4:p.Gly190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264127"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 609,
          "referenceAllele": "G",
          "start": 608
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000359085.8:c.568G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000351988.4:p.Gly190Arg",
        "hgvsWellDefined": "ENSP00000351988.4:p.Gly190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS264670"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 685,
          "referenceAllele": "G",
          "start": 684
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000396284.6:c.685G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379580.3:p.Gly229Arg",
        "hgvsWellDefined": "ENSP00000379580.3:p.Gly229Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277194"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 563,
          "referenceAllele": "G",
          "start": 562
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000396289.5:c.563G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS277196"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 294,
          "referenceAllele": "G",
          "start": 293
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000396293.5:c.283G>A"
      ],
      "proteinEffect": {
        "hgvs": "ENSP00000379588.1:p.Gly95Arg",
        "hgvsWellDefined": "ENSP00000379588.1:p.Gly95Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS277199"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000463062.1:n.580G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS307182"
    },
    {
      "coordinates": [
        {
          "allele": "A",
          "end": 580,
          "referenceAllele": "G",
          "start": 579
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "ENST00000486965.6:n.580G>A"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS325641"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825473498",
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "NM_001080770.1:c.568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074239.1:p.Gly190Arg",
        "hgvsWellDefined": "NP_001074239.1:p.Gly190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010299"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825473546",
      "coordinates": [
        {
          "allele": "A",
          "end": 608,
          "referenceAllele": "G",
          "start": 607
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "NM_001080772.1:c.568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074241.1:p.Gly190Arg",
        "hgvsWellDefined": "NP_001074241.1:p.Gly190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS010300"
    },
    {
      "coordinates": [
        {
          "allele": "T",
          "end": 690,
          "endIntronDirection": "+",
          "endIntronOffset": 10051,
          "referenceAllele": "C",
          "start": 690,
          "startIntronDirection": "+",
          "startIntronOffset": 10050
        }
      ],
      "hgvs": [
        "XR_430260.1:n.690+10051C>T"
      ],
      "referenceSequence": "http://reg.genome.network/refseq/RS118644"
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825473498",
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "NM_001080770.2:c.568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074239.1:p.Gly190Arg",
        "hgvsWellDefined": "NP_001074239.1:p.Gly190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663320",
      "MANE": {
        "maneVersion": "1.3",
        "maneStatus": "MANE Select",
        "nucleotide": {
          "Ensembl": {
            "hgvs": "ENST00000345540.10:c.568G>A"
          },
          "RefSeq": {
            "hgvs": "NM_001080770.2:c.568G>A"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000339634.5:p.Gly190Arg"
          },
          "RefSeq": {
            "hgvs": "NP_001074239.1:p.Gly190Arg"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2825473546",
      "coordinates": [
        {
          "allele": "A",
          "end": 610,
          "referenceAllele": "G",
          "start": 609
        }
      ],
      "gene": "http://reg.genome.network/gene/GN006332",
      "geneNCBI_id": 3805,
      "geneSymbol": "KIR2DL4",
      "hgvs": [
        "NM_001080772.2:c.568G>A"
      ],
      "proteinEffect": {
        "hgvs": "NP_001074241.1:p.Gly190Arg",
        "hgvsWellDefined": "NP_001074241.1:p.Gly190Arg"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS663321"
    }
  ],
  "type": "nucleotide"
}