{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA114725", "communityStandardTitle": [ "NM_022489.4(INF2):c.641G>A (p.Arg214His)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=16092[alleleid]", "alleleId": 16092, "preferredName": "NM_022489.4(INF2):c.641G>A (p.Arg214His)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1053", "RCV": [ "RCV000001108", "RCV001380435", "RCV002293971" ], "variationId": 1053 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.105169765G>A?assembly=hg19", "id": "chr14:g.105169765G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr14:g.104703428G>A?assembly=hg38", "id": "chr14:g.104703428G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/267606879", "rs": 267606879 } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-104703428-G-A?dataset=gnomad_r3", "id": "14-104703428-G-A", "variant": "14:104703428 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/14-104703428-G-A?dataset=gnomad_r4", "id": "14-104703428-G-A", "variant": "14:104703428 G / A" } ] }, "genomicAlleles": [ { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 104703428, "referenceAllele": "G", "start": 104703427 } ], "hgvs": [ "NC_000014.9:g.104703428G>A", "CM000676.2:g.104703428G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000062" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 105169765, "referenceAllele": "G", "start": 105169764 } ], "hgvs": [ "NC_000014.8:g.105169765G>A", "CM000676.1:g.105169765G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000038" }, { "chromosome": "14", "coordinates": [ { "allele": "A", "end": 104240810, "referenceAllele": "G", "start": 104240809 } ], "hgvs": [ "NC_000014.7:g.104240810G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000014" }, { "coordinates": [ { "allele": "A", "end": 18823, "referenceAllele": "G", "start": 18822 } ], "hgvs": [ "NG_027684.1:g.18823G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003907" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000392634.9:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000376410.4:p.Arg214His", "hgvsWellDefined": "ENSP00000376410.4:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS753032", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392634.9:c.641G>A" }, "RefSeq": { "hgvs": "NM_022489.4:c.641G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376410.4:p.Arg214His" }, "RefSeq": { "hgvs": "NP_071934.3:p.Arg214His" } } } }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000617571.5:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000483829.2:p.Arg214His", "hgvsWellDefined": "ENSP00000483829.2:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS762124" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000674520.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502593.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502593.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774475" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000674662.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000501895.1:p.Arg214His", "hgvsWellDefined": "ENSP00000501895.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774597" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000674757.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502202.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502202.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774676" }, { "coordinates": [ { "allele": "A", "end": 525, "referenceAllele": "G", "start": 524 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000674822.1:c.525G>A" ], "proteinEffect": { "hgvs": "ENSP00000501552.1:n.525G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774729" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000674846.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502431.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502431.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774747" }, { "coordinates": [ { "allele": "A", "end": 630, "referenceAllele": "G", "start": 629 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000674857.1:c.630G>A" ], "proteinEffect": { "hgvs": "ENSP00000501687.1:n.630G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS774756" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000674960.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000501841.1:p.Arg214His", "hgvsWellDefined": "ENSP00000501841.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774842" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000674991.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502004.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502004.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774870" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000674994.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502442.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502442.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS774873" }, { "coordinates": [ { "allele": "A", "end": 843, "referenceAllele": "G", "start": 842 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675029.1:n.843G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS774905" }, { "coordinates": [ { "allele": "A", "end": 881, "referenceAllele": "G", "start": 880 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675207.1:c.737G>A" ], "proteinEffect": { "hgvs": "ENSP00000502644.1:p.Arg246His", "hgvsWellDefined": "ENSP00000502644.1:p.Arg246His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775061" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675329.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502287.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502287.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775162" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675481.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502723.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502723.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775297" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675583.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000501740.1:p.Arg214His", "hgvsWellDefined": "ENSP00000501740.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775381" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675638.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000501647.1:p.Arg214His", "hgvsWellDefined": "ENSP00000501647.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775430" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675724.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502576.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502576.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775503" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675771.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502104.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502104.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775543" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675797.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502023.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502023.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775568" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675809.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502587.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502587.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775580" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675930.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502456.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502456.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775685" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000675980.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502520.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502520.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775726" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000676016.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000502412.1:p.Arg214His", "hgvsWellDefined": "ENSP00000502412.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS775757" }, { "coordinates": [ { "allele": "A", "end": 641, "referenceAllele": "G", "start": 640 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000676366.1:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000501605.1:p.Arg214His", "hgvsWellDefined": "ENSP00000501605.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS776056" }, { "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000330634.11:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000376406.3:p.Arg214His", "hgvsWellDefined": "ENSP00000376406.3:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS259268" }, { "coordinates": [ { "allele": "A", "end": 753, "referenceAllele": "G", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000392634.8:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000376410.4:p.Arg214His", "hgvsWellDefined": "ENSP00000376410.4:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS275211" }, { "coordinates": [ { "allele": "A", "end": 769, "referenceAllele": "G", "start": 768 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "ENST00000398337.8:c.641G>A" ], "proteinEffect": { "hgvs": "ENSP00000381380.4:p.Arg214His", "hgvsWellDefined": "ENSP00000381380.4:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS278230" }, { "@id": "http://reg.genome.network/allele/PA2825350812", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "NM_001031714.3:c.641G>A" ], "proteinEffect": { "hgvs": "NP_001026884.3:p.Arg214His", "hgvsWellDefined": "NP_001026884.3:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS009006" }, { "@id": "http://reg.genome.network/allele/PA111314", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "NM_022489.3:c.641G>A" ], "proteinEffect": { "hgvs": "NP_071934.3:p.Arg214His", "hgvsWellDefined": "NP_071934.3:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS037351" }, { "@id": "http://reg.genome.network/allele/PA916072156", "coordinates": [ { "allele": "A", "end": 784, "referenceAllele": "G", "start": 783 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "NM_032714.2:c.641G>A" ], "proteinEffect": { "hgvs": "NP_116103.1:p.Arg214His", "hgvsWellDefined": "NP_116103.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS039263" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "XM_005268004.3:c.737G>A" ], "proteinEffect": { "hgvs": "XP_005268061.1:p.Arg246His", "hgvsWellDefined": "XP_005268061.1:p.Arg246His" }, "referenceSequence": "http://reg.genome.network/refseq/RS065583" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "XM_005268005.3:c.737G>A" ], "proteinEffect": { "hgvs": "XP_005268062.1:p.Arg246His", "hgvsWellDefined": "XP_005268062.1:p.Arg246His" }, "referenceSequence": "http://reg.genome.network/refseq/RS065584" }, { "coordinates": [ { "allele": "A", "end": 866, "referenceAllele": "G", "start": 865 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "XR_943507.1:n.866G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS137530" }, { "coordinates": [ { "allele": "A", "end": 871, "referenceAllele": "G", "start": 870 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "XM_005268004.4:c.737G>A" ], "proteinEffect": { "hgvs": "XP_005268061.1:p.Arg246His", "hgvsWellDefined": "XP_005268061.1:p.Arg246His" }, "referenceSequence": "http://reg.genome.network/refseq/RS536497" }, { "coordinates": [ { "allele": "A", "end": 842, "referenceAllele": "G", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "XM_005268005.4:c.737G>A" ], "proteinEffect": { "hgvs": "XP_005268062.1:p.Arg246His", "hgvsWellDefined": "XP_005268062.1:p.Arg246His" }, "referenceSequence": "http://reg.genome.network/refseq/RS536498" }, { "coordinates": [ { "allele": "A", "end": 842, "referenceAllele": "G", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "XM_017021595.1:c.737G>A" ], "proteinEffect": { "hgvs": "XP_016877084.1:p.Arg246His", "hgvsWellDefined": "XP_016877084.1:p.Arg246His" }, "referenceSequence": "http://reg.genome.network/refseq/RS572752" }, { "coordinates": [ { "allele": "A", "end": 842, "referenceAllele": "G", "start": 841 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "XR_001750518.1:n.842G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS597765" }, { "@id": "http://reg.genome.network/allele/PA2825350812", "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "NM_001031714.4:c.641G>A" ], "proteinEffect": { "hgvs": "NP_001026884.3:p.Arg214His", "hgvsWellDefined": "NP_001026884.3:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS675735" }, { "@id": "http://reg.genome.network/allele/PA111314", "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "NM_022489.4:c.641G>A" ], "proteinEffect": { "hgvs": "NP_071934.3:p.Arg214His", "hgvsWellDefined": "NP_071934.3:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS698551", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000392634.9:c.641G>A" }, "RefSeq": { "hgvs": "NM_022489.4:c.641G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000376410.4:p.Arg214His" }, "RefSeq": { "hgvs": "NP_071934.3:p.Arg214His" } } } }, { "@id": "http://reg.genome.network/allele/PA916072156", "coordinates": [ { "allele": "A", "end": 772, "referenceAllele": "G", "start": 771 } ], "gene": "http://reg.genome.network/gene/GN023791", "geneNCBI_id": 64423, "geneSymbol": "INF2", "hgvs": [ "NM_032714.3:c.641G>A" ], "proteinEffect": { "hgvs": "NP_116103.1:p.Arg214His", "hgvsWellDefined": "NP_116103.1:p.Arg214His" }, "referenceSequence": "http://reg.genome.network/refseq/RS728868" } ], "type": "nucleotide" }