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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
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.133003045C=
CA2459258393
X
g.133003045C>T
CA871650992
dbSNP
gnomAD v3
gnomAD v4
X
g.133003048T>G
CA871650996
dbSNP
X
g.133003048T=
CA2459258394
X
g.133003049T>G
CA644520046
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003049T=
CA2459258395
X
g.133003053T>A
CA335926116
dbSNP
gnomAD v3
gnomAD v4
X
g.133003053T=
CA2459258396
X
g.133003056A>G
CA2823639428
X
g.133003058A=
CA2459258397
X
g.133003058A>T
CA871651003
dbSNP
X
g.133003059C>A
CA2739088328
dbSNP
X
g.133003075A=
CA2459258398
X
g.133003075A>C
CA2459258399
dbSNP
X
g.133003078T>C
CA2823639429
X
g.133003079G=
CA2459258400
X
g.133003079G>T
CA335926117
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
COSMIC
X
g.133003082C=
CA2459258401
X
g.133003082C>T
CA335926118
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003083G>A
CA871651006
dbSNP
X
g.133003083G=
CA2459258402
X
g.133003085T>G
CA2823639430
X
g.133003086T>C
CA644520052
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003086T=
CA2459258403
X
g.133003093T>C
CA1137442551
dbSNP
gnomAD v3
gnomAD v4
X
g.133003093T=
CA2459258404
X
g.133003094G>T
CA2823639431
X
g.133003099C>A
CA2823639432
X
g.133003099C=
CA2459258405
X
g.133003099C>T
CA335926119
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003102A=
CA2459258406
X
g.133003102A>G
CA871651028
dbSNP
gnomAD v3
gnomAD v4
X
g.133003103C>A
CA2823639433
X
g.133003110G>A
CA1137442561
dbSNP
gnomAD v3
gnomAD v4
X
g.133003110G=
CA2459258407
X
g.133003110G>T
CA2823639434
X
g.133003111C=
CA2459258408
X
g.133003111C>T
CA2459258409
dbSNP
X
g.133003118T>C
CA2823639435
X
g.133003119C>A
CA2823639436
X
g.133003119C=
CA2459258410
X
g.133003119C>G
CA2459258411
dbSNP
X
g.133003126dup
CA644520056
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003121T>G
CA2823639437
X
g.133003125T>A
CA2459258413
dbSNP
X
g.133003125T>C
CA871651045
dbSNP
gnomAD v3
gnomAD v4
X
g.133003125T=
CA2459258412
X
g.133003126T>A
CA2459258415
dbSNP
X
g.133003126T=
CA2459258414
X
g.133003127A=
CA2459258417
X
g.133003127A>G
CA2459258416
dbSNP
X
g.133003127A>T
CA2823639438
X
g.133003128T>C
CA335926120
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003128T=
CA2459258418
X
g.133003133G>A
CA2459258420
dbSNP
gnomAD v3
gnomAD v4
X
g.133003133G=
CA2459258419
X
g.133003135C>T
CA2823639439
X
g.133003140C>A
CA871651049
dbSNP
gnomAD v3
gnomAD v4
X
g.133003140C=
CA2459258421
X
g.133003141C>A
CA1137442566
X
g.133003141C=
CA2459258422
X
g.133003141C>T
CA335926121
dbSNP
X
g.133003143T>A
CA2459258424
dbSNP
X
g.133003143T>C
CA335926122
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
X
g.133003143T=
CA2459258423
X
g.133003145A=
CA2459258425
X
g.133003145A>C
CA335926123
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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