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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.8931554T>C
CA2590009649
gnomAD v3
gnomAD v4
18
g.8931559T>A
CA2283587393
dbSNP
18
g.8931559T=
CA2283587392
18
g.8931561C=
CA2283587394
18
g.8931561C>T
CA2283587395
dbSNP
18
g.8931562C=
CA2283587396
18
g.8931562C>T
CA296465317
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931566A=
CA2283587397
18
g.8931566A>G
CA914223891
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931566A>T
CA2590009650
dbSNP
gnomAD v3
gnomAD v4
18
g.8931567A=
CA2283587398
18
g.8931567A>G
CA2283587399
dbSNP
18
g.8931569A=
CA2283587400
18
g.8931569A>G
CA628389609
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931571C>A
CA783037823
dbSNP
gnomAD v3
gnomAD v4
18
g.8931571C=
CA2283587401
18
g.8931573A=
CA2283587402
18
g.8931573A>G
CA628389610
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931575A>G
CA2734598005
dbSNP
18
g.8931577A=
CA2283587404
18
g.8931577A>C
CA296465318
dbSNP
gnomAD v3
gnomAD v4
18
g.8931577_8931578delinsAT
CA2283587403
18
g.8931578del
CA987671971
dbSNP
gnomAD v3
gnomAD v4
18
g.8931580A=
CA2283587406
18
g.8931580A>G
CA2283587405
dbSNP
18
g.8931581T>C
CA2283587408
dbSNP
18
g.8931581T=
CA2283587407
18
g.8931582G>A
CA296465319
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931582G=
CA2283587409
18
g.8931585C=
CA2283587410
18
g.8931585C>T
CA296465320
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931587A=
CA2283587411
18
g.8931587A>G
CA783037824
dbSNP
18
g.8931590T>A
CA783037825
dbSNP
18
g.8931590T=
CA2283587412
18
g.8931593G=
CA2283587413
18
g.8931593G>T
CA296465321
dbSNP
gnomAD v3
gnomAD v4
18
g.8931596A=
CA2283587414
18
g.8931596A>G
CA783037826
dbSNP
gnomAD v3
gnomAD v4
18
g.8931600C=
CA2283587415
18
g.8931600C>T
CA2283587416
dbSNP
18
g.8931606G>C
CA2734598053
dbSNP
18
g.8931607T>C
CA296465322
dbSNP
18
g.8931607T=
CA2283587417
18
g.8931608C>A
CA2520869551
18
g.8931608C=
CA2283587418
18
g.8931608C>T
CA296465323
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931609dup
CA2283587419
dbSNP
18
g.8931610G>A
CA987671999
dbSNP
gnomAD v3
gnomAD v4
18
g.8931610G=
CA2283587420
18
g.8931613A=
CA2283587421
18
g.8931613A>G
CA2283587422
dbSNP
18
g.8931614G>A
CA783037827
dbSNP
gnomAD v3
gnomAD v4
18
g.8931614G=
CA2283587423
18
g.8931617C>A
CA2283587425
dbSNP
18
g.8931617C=
CA2283587424
18
g.8931624G>A
CA296465324
dbSNP
18
g.8931624G=
CA2283587426
18
g.8931625G>A
CA296465325
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931625G=
CA2283587427
18
g.8931625G>T
CA296465326
dbSNP
gnomAD v3
gnomAD v4
18
g.8931626T>A
CA296465327
dbSNP
gnomAD v3
gnomAD v4
18
g.8931626T=
CA2283587428
18
g.8931627G>A
CA2283587430
dbSNP
18
g.8931627G=
CA2283587429
18
g.8931628T>C
CA783037828
dbSNP
gnomAD v3
gnomAD v4
18
g.8931628T=
CA2283587431
18
g.8931629C=
CA2283587432
18
g.8931629C>G
CA296465328
dbSNP
18
g.8931632G>A
CA296465329
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931632G=
CA2283587433
18
g.8931632G>T
CA657184311
COSMIC
18
g.8931637G>A
CA783037829
dbSNP
gnomAD v3
gnomAD v4
18
g.8931637G=
CA2283587434
18
g.8931637_8931639del
CA2508589387
18
g.8931639C=
CA2283587435
18
g.8931639C>T
CA296465330
dbSNP
18
g.8931639_8931643delinsCTTGT
CA2283587436
18
g.8931642_8931645del
CA296465331
dbSNP
gnomAD v3
gnomAD v4
18
g.8931643T>C
CA987672009
dbSNP
gnomAD v3
gnomAD v4
18
g.8931643T=
CA2283587437
18
g.8931644T>C
CA2283587439
dbSNP
18
g.8931644T=
CA2283587438
18
g.8931647T>C
CA2283587441
dbSNP
18
g.8931647T=
CA2283587440
18
g.8931652T>C
CA2283587442
dbSNP
18
g.8931652T=
CA2283587443
18
g.8931653A=
CA2283587444
18
g.8931653A>G
CA2283587445
dbSNP
18
g.8931654T>A
CA2283587447
dbSNP
18
g.8931654T>C
CA296465332
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.8931654T=
CA2283587446
Number of alleles fetched
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