{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA8241775", "communityStandardTitle": [ "NM_013275.6(ANKRD11):c.5623G>A (p.Val1875Ile)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1705171[alleleid]", "alleleId": 1705171, "preferredName": "NM_013275.6(ANKRD11):c.5623G>A (p.Val1875Ile)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1706860", "RCV": [ "RCV002285776", "RCV003526124", "RCV003097692" ], "variationId": 1706860 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/16-89347327-C-T", "id": "16-89347327-C-T", "variant": "16:89347327 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89347327C>T?assembly=hg19", "id": "chr16:g.89347327C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr16:g.89280919C>T?assembly=hg38", "id": "chr16:g.89280919C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/367577142", "rs": 367577142 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89347327-C-T?dataset=gnomad_r2_1", "id": "16-89347327-C-T", "variant": "16:89347327 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89280919-C-T?dataset=gnomad_r3", "id": "16-89280919-C-T", "variant": "16:89280919 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/16-89280919-C-T?dataset=gnomad_r4", "id": "16-89280919-C-T", "variant": "16:89280919 C / T" } ] }, "genomicAlleles": [ { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89280919, "referenceAllele": "C", "start": 89280918 } ], "hgvs": [ "NC_000016.10:g.89280919C>T", "CM000678.2:g.89280919C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000064" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 89347327, "referenceAllele": "C", "start": 89347326 } ], "hgvs": [ "NC_000016.9:g.89347327C>T", "CM000678.1:g.89347327C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000040" }, { "chromosome": "16", "coordinates": [ { "allele": "T", "end": 87874828, "referenceAllele": "C", "start": 87874827 } ], "hgvs": [ "NC_000016.8:g.87874828C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000016" }, { "coordinates": [ { "allele": "A", "end": 214643, "referenceAllele": "G", "start": 214642 } ], "hgvs": [ "NG_032003.1:g.214643G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS005088" }, { "coordinates": [ { "allele": "A", "end": 214643, "referenceAllele": "G", "start": 214642 } ], "hgvs": [ "NG_032003.2:g.214643G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS673857" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 6084, "referenceAllele": "G", "start": 6083 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.10:c.5623G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Val1875Ile", "hgvsWellDefined": "ENSP00000301030.4:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS744803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.5623G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.5623G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Val1875Ile" }, "RefSeq": { "hgvs": "NP_037407.4:p.Val1875Ile" } } } }, { "coordinates": [ { "allele": "A", "end": 5936, "referenceAllele": "G", "start": 5935 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.10:c.*5426G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*5426G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS747095" }, { "coordinates": [ { "allele": "A", "end": 5914, "referenceAllele": "G", "start": 5913 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.7:c.5623G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Val1875Ile", "hgvsWellDefined": "ENSP00000367581.2:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS752067" }, { "coordinates": [ { "allele": "A", "end": 5999, "referenceAllele": "G", "start": 5998 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000642600.1:c.5623G>A" ], "proteinEffect": { "hgvs": "ENSP00000495226.1:p.Val1875Ile", "hgvsWellDefined": "ENSP00000495226.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS766832" }, { "coordinates": [ { "allele": "A", "end": 744, "endIntronDirection": "-", "endIntronOffset": 5727, "referenceAllele": "G", "start": 744, "startIntronDirection": "-", "startIntronOffset": 5728 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000644285.1:c.745-5728G>A" ], "proteinEffect": { "hgvs": "ENSP00000496476.1:n.745-5728G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767741" }, { "coordinates": [ { "allele": "A", "end": 6084, "referenceAllele": "G", "start": 6083 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000301030.8:c.5623G>A" ], "proteinEffect": { "hgvs": "ENSP00000301030.4:p.Val1875Ile", "hgvsWellDefined": "ENSP00000301030.4:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS254944" }, { "coordinates": [ { "allele": "A", "end": 5843, "referenceAllele": "G", "start": 5842 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000330736.9:c.*5426G>A" ], "proteinEffect": { "hgvs": "ENSP00000330815.5:n.*5426G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS259288" }, { "coordinates": [ { "allele": "A", "end": 5912, "referenceAllele": "G", "start": 5911 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000378330.6:c.5623G>A" ], "proteinEffect": { "hgvs": "ENSP00000367581.2:p.Val1875Ile", "hgvsWellDefined": "ENSP00000367581.2:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS271989" }, { "coordinates": [ { "allele": "A", "end": 151, "endIntronDirection": "-", "endIntronOffset": 5727, "referenceAllele": "G", "start": 151, "startIntronDirection": "-", "startIntronOffset": 5728 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "ENST00000562194.1:c.152-5728G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS376627" }, { "@id": "http://reg.genome.network/allele/PA2826374069", "coordinates": [ { "allele": "A", "end": 6155, "referenceAllele": "G", "start": 6154 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.1:c.5623G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Val1875Ile", "hgvsWellDefined": "NP_001243111.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS019125" }, { "@id": "http://reg.genome.network/allele/PA2826375922", "coordinates": [ { "allele": "A", "end": 6081, "referenceAllele": "G", "start": 6080 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.1:c.5623G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Val1875Ile", "hgvsWellDefined": "NP_001243112.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS019126" }, { "@id": "http://reg.genome.network/allele/PA2580357099", "coordinates": [ { "allele": "A", "end": 6084, "referenceAllele": "G", "start": 6083 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.5:c.5623G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Val1875Ile", "hgvsWellDefined": "NP_037407.4:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS032679" }, { "coordinates": [ { "allele": "A", "end": 5861, "referenceAllele": "G", "start": 5860 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721181.1:c.5521G>A" ], "proteinEffect": { "hgvs": "XP_006721244.1:p.Val1841Ile", "hgvsWellDefined": "XP_006721244.1:p.Val1841Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS073977" }, { "coordinates": [ { "allele": "A", "end": 5899, "referenceAllele": "G", "start": 5898 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_006721184.2:c.5326G>A" ], "proteinEffect": { "hgvs": "XP_006721247.1:p.Val1776Ile", "hgvsWellDefined": "XP_006721247.1:p.Val1776Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS073978" }, { "coordinates": [ { "allele": "A", "end": 6141, "referenceAllele": "G", "start": 6140 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.1:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Val1875Ile", "hgvsWellDefined": "XP_011521353.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090191" }, { "coordinates": [ { "allele": "A", "end": 5846, "referenceAllele": "G", "start": 5845 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523052.1:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_011521354.1:p.Val1875Ile", "hgvsWellDefined": "XP_011521354.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090192" }, { "coordinates": [ { "allele": "A", "end": 6279, "referenceAllele": "G", "start": 6278 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.1:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Val1875Ile", "hgvsWellDefined": "XP_011521355.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090193" }, { "coordinates": [ { "allele": "A", "end": 6194, "referenceAllele": "G", "start": 6193 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.1:c.5521G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Val1841Ile", "hgvsWellDefined": "XP_011521356.1:p.Val1841Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090194" }, { "coordinates": [ { "allele": "A", "end": 6467, "referenceAllele": "G", "start": 6466 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.1:c.5521G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Val1841Ile", "hgvsWellDefined": "XP_011521357.1:p.Val1841Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090195" }, { "coordinates": [ { "allele": "A", "end": 6216, "referenceAllele": "G", "start": 6215 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.1:c.5494G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Val1832Ile", "hgvsWellDefined": "XP_011521358.1:p.Val1832Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090196" }, { "coordinates": [ { "allele": "A", "end": 6096, "referenceAllele": "G", "start": 6095 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.1:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Val1875Ile", "hgvsWellDefined": "XP_011521359.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS090197" }, { "coordinates": [ { "allele": "A", "end": 6145, "referenceAllele": "G", "start": 6144 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523051.3:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_011521353.1:p.Val1875Ile", "hgvsWellDefined": "XP_011521353.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546876" }, { "coordinates": [ { "allele": "A", "end": 6250, "referenceAllele": "G", "start": 6249 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523053.2:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_011521355.1:p.Val1875Ile", "hgvsWellDefined": "XP_011521355.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546877" }, { "coordinates": [ { "allele": "A", "end": 6164, "referenceAllele": "G", "start": 6163 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523054.2:c.5521G>A" ], "proteinEffect": { "hgvs": "XP_011521356.1:p.Val1841Ile", "hgvsWellDefined": "XP_011521356.1:p.Val1841Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546878" }, { "coordinates": [ { "allele": "A", "end": 6449, "referenceAllele": "G", "start": 6448 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523055.2:c.5521G>A" ], "proteinEffect": { "hgvs": "XP_011521357.1:p.Val1841Ile", "hgvsWellDefined": "XP_011521357.1:p.Val1841Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546879" }, { "coordinates": [ { "allele": "A", "end": 6186, "referenceAllele": "G", "start": 6185 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523056.2:c.5494G>A" ], "proteinEffect": { "hgvs": "XP_011521358.1:p.Val1832Ile", "hgvsWellDefined": "XP_011521358.1:p.Val1832Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546880" }, { "coordinates": [ { "allele": "A", "end": 6067, "referenceAllele": "G", "start": 6066 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_011523057.2:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_011521359.1:p.Val1875Ile", "hgvsWellDefined": "XP_011521359.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS546881" }, { "coordinates": [ { "allele": "A", "end": 6631, "referenceAllele": "G", "start": 6630 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023182.2:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_016878671.1:p.Val1875Ile", "hgvsWellDefined": "XP_016878671.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573985" }, { "coordinates": [ { "allele": "A", "end": 6253, "referenceAllele": "G", "start": 6252 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023183.1:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_016878672.1:p.Val1875Ile", "hgvsWellDefined": "XP_016878672.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573986" }, { "coordinates": [ { "allele": "A", "end": 6250, "referenceAllele": "G", "start": 6249 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023184.1:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_016878673.1:p.Val1875Ile", "hgvsWellDefined": "XP_016878673.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573987" }, { "coordinates": [ { "allele": "A", "end": 5891, "referenceAllele": "G", "start": 5890 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023185.1:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_016878674.1:p.Val1875Ile", "hgvsWellDefined": "XP_016878674.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573988" }, { "coordinates": [ { "allele": "A", "end": 6627, "referenceAllele": "G", "start": 6626 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023186.1:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_016878675.1:p.Val1875Ile", "hgvsWellDefined": "XP_016878675.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573989" }, { "coordinates": [ { "allele": "A", "end": 5979, "referenceAllele": "G", "start": 5978 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_017023187.1:c.5623G>A" ], "proteinEffect": { "hgvs": "XP_016878676.1:p.Val1875Ile", "hgvsWellDefined": "XP_016878676.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS573990" }, { "coordinates": [ { "allele": "A", "end": 6161, "referenceAllele": "G", "start": 6160 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "XM_024450244.1:c.5521G>A" ], "proteinEffect": { "hgvs": "XP_024306012.1:p.Val1841Ile", "hgvsWellDefined": "XP_024306012.1:p.Val1841Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS583785" }, { "@id": "http://reg.genome.network/allele/PA2580357099", "coordinates": [ { "allele": "A", "end": 6084, "referenceAllele": "G", "start": 6083 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_013275.6:c.5623G>A" ], "proteinEffect": { "hgvs": "NP_037407.4:p.Val1875Ile", "hgvsWellDefined": "NP_037407.4:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS668098", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000301030.10:c.5623G>A" }, "RefSeq": { "hgvs": "NM_013275.6:c.5623G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000301030.4:p.Val1875Ile" }, "RefSeq": { "hgvs": "NP_037407.4:p.Val1875Ile" } } } }, { "@id": "http://reg.genome.network/allele/PA2826374069", "coordinates": [ { "allele": "A", "end": 6155, "referenceAllele": "G", "start": 6154 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256182.2:c.5623G>A" ], "proteinEffect": { "hgvs": "NP_001243111.1:p.Val1875Ile", "hgvsWellDefined": "NP_001243111.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS680509" }, { "@id": "http://reg.genome.network/allele/PA2826375922", "coordinates": [ { "allele": "A", "end": 6081, "referenceAllele": "G", "start": 6080 } ], "gene": "http://reg.genome.network/gene/GN021316", "geneNCBI_id": 29123, "geneSymbol": "ANKRD11", "hgvs": [ "NM_001256183.2:c.5623G>A" ], "proteinEffect": { "hgvs": "NP_001243112.1:p.Val1875Ile", "hgvsWellDefined": "NP_001243112.1:p.Val1875Ile" }, "referenceSequence": "http://reg.genome.network/refseq/RS680510" } ], "type": "nucleotide" }