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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
16
g.52288007T>C
CA2807040314
16
g.52288008T>C
CA2595542979
dbSNP
gnomAD v3
gnomAD v4
16
g.52288009G=
CA2222590427
16
g.52288009G>T
CA281842971
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
16
g.52288011A>G
CA2807040315
16
g.52288014_52288015delinsTC
CA2222590434
16
g.52288016del
CA721546423
dbSNP
gnomAD v3
gnomAD v4
16
g.52288018G>A
CA721546424
dbSNP
16
g.52288018G=
CA2222590439
16
g.52288021T>G
CA2807040316
16
g.52288028A>G
CA2595542980
gnomAD v3
gnomAD v4
16
g.52288030G>A
CA977339205
dbSNP
gnomAD v3
gnomAD v4
16
g.52288030G=
CA2222590446
16
g.52288030G>T
CA281842972
dbSNP
gnomAD v3
gnomAD v4
16
g.52288033C>T
CA2807040317
16
g.52288037G>A
CA2807040318
16
g.52288038A=
CA2222590457
16
g.52288038A>C
CA721546425
dbSNP
16
g.52288038_52288044delinsACTTAGC
CA2222590453
16
g.52288039_52288044del
CA721546427
dbSNP
16
g.52288042A>G
CA2807040319
16
g.52288046G>A
CA622531207
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
16
g.52288046G=
CA2222590463
16
g.52288046_52288054delinsGAAGACCCA
CA2222590466
16
g.52288047A=
CA2222590472
16
g.52288047A>T
CA2222590473
dbSNP
16
g.52288047_52288054del
CA2222590470
dbSNP
16
g.52288049G>A
CA2732550945
dbSNP
16
g.52288050A=
CA2222590476
16
g.52288050A>G
CA2222590482
dbSNP
16
g.52288050A>T
CA2807040320
16
g.52288051C>A
CA281842973
dbSNP
gnomAD v3
gnomAD v4
COSMIC
16
g.52288051C=
CA2222590488
16
g.52288051C>T
CA622531210
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
16
g.52288052C>A
CA281842974
dbSNP
gnomAD v3
gnomAD v4
16
g.52288052C=
CA2222590496
16
g.52288052C>G
CA721546440
dbSNP
16
g.52288052C>T
CA2222590493
dbSNP
16
g.52288057A>T
CA2595542981
dbSNP
gnomAD v3
gnomAD v4
16
g.52288058A=
CA2222590500
16
g.52288058A>G
CA281842975
dbSNP
16
g.52288062G>A
CA281842976
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
16
g.52288062G=
CA2222590502
16
g.52288062G>T
CA622531215
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
16
g.52288064T>C
CA281842977
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
16
g.52288064T=
CA2222590508
16
g.52288065G>C
CA2222590513
dbSNP
16
g.52288065G=
CA2222590512
16
g.52288068A=
CA2222590515
16
g.52288068A>G
CA281842978
dbSNP
gnomAD v3
gnomAD v4
16
g.52288069C>A
CA2222590517
dbSNP
16
g.52288069C=
CA2222590519
16
g.52288070T>A
CA2222590521
dbSNP
16
g.52288070T=
CA2222590520
16
g.52288071C=
CA2222590523
16
g.52288071C>T
CA281842979
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
16
g.52288072G>A
CA281842980
dbSNP
gnomAD v3
gnomAD v4
16
g.52288072G=
CA2222590527
16
g.52288077G>A
CA977339219
dbSNP
gnomAD v3
gnomAD v4
16
g.52288077G=
CA2222590531
16
g.52288077G>T
CA721546458
dbSNP
gnomAD v3
gnomAD v4
16
g.52288078A=
CA2222590533
16
g.52288078A>G
CA281842981
dbSNP
gnomAD v3
gnomAD v4
16
g.52288080T>C
CA2222590536
dbSNP
16
g.52288080T=
CA2222590535
16
g.52288082T>A
CA2222590541
dbSNP
16
g.52288082T=
CA2222590539
16
g.52288083G=
CA2222590544
16
g.52288083G>T
CA721546466
dbSNP
16
g.52288084T>C
CA2222590546
dbSNP
16
g.52288084T=
CA2222590548
16
g.52288087T>C
CA721546473
dbSNP
gnomAD v3
gnomAD v4
16
g.52288087T>G
CA2222590553
dbSNP
16
g.52288087T=
CA2222590551
16
g.52288092A=
CA2222590556
16
g.52288092A>C
CA721546478
dbSNP
gnomAD v3
gnomAD v4
16
g.52288093A=
CA2222590558
16
g.52288093A>G
CA2222590560
dbSNP
16
g.52288094T>C
CA2595542982
dbSNP
gnomAD v3
gnomAD v4
16
g.52288097A=
CA2222590561
16
g.52288097A>C
CA2222590562
dbSNP
16
g.52288098T>A
CA281842982
dbSNP
gnomAD v3
gnomAD v4
16
g.52288098T=
CA2222590564
16
g.52288101A=
CA2222590569
16
g.52288101A>G
CA2222590572
dbSNP
16
g.52288104T>C
CA2741486433
16
g.52288105_52288106delinsAC
CA2222590573
16
g.52288106C=
CA2222590576
16
g.52288106C>G
CA721546483
dbSNP
gnomAD v3
gnomAD v4
16
g.52288110del
CA919707191
dbSNP
16
g.52288107C=
CA2222590581
16
g.52288107C>T
CA281842983
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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