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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
Y
g.17261024T>C
CA337300067
dbSNP
gnomAD v3
gnomAD v4
Y
g.17261024T=
CA2470835467
Y
g.17261025A=
CA2470835468
Y
g.17261025A>C
CA1139378603
dbSNP
gnomAD v3
gnomAD v4
Y
g.17261032C>G
CA2569930961
Y
g.17261033C>A
CA2535614459
Y
g.17261034A>T
CA2532761995
Y
g.17261035A=
CA2470835469
Y
g.17261035A>G
CA1139378610
dbSNP
gnomAD v3
gnomAD v4
Y
g.17261035A>T
CA337300073
dbSNP
gnomAD v3
gnomAD v4
Y
g.17261043dup
CA880359852
dbSNP
gnomAD v3
gnomAD v4
Y
g.17261043del
CA2552770549
Y
g.17261037T>G
CA2556731714
Y
g.17261038T>G
CA2501010417
Y
g.17261043T>A
CA2539983158
Y
g.17261047C=
CA2470835470
Y
g.17261047C>T
CA2470835471
dbSNP
Y
g.17261050C>A
CA2520154421
Y
g.17261059G=
CA2470835472
Y
g.17261060dup
CA1139378623
dbSNP
gnomAD v3
gnomAD v4
Y
g.17261063G>A
CA337300077
dbSNP
Y
g.17261063G=
CA2470835473
Y
g.17261064C>A
CA337300081
dbSNP
Y
g.17261064C=
CA2470835474
Y
g.17261071A>G
CA1139378624
gnomAD v3
gnomAD v4
Y
g.17261090T>C
CA337300082
dbSNP
gnomAD v3
gnomAD v4
Y
g.17261090T=
CA2470835475
Y
g.17261095C=
CA2470835476
Y
g.17261095C>G
CA337300083
dbSNP
gnomAD v3
gnomAD v4
Y
g.17261096C>T
CA658589621
COSMIC
Y
g.17261107T>G
CA1139378633
gnomAD v3
gnomAD v4
Y
g.17261121G>T
CA2572418146
Number of alleles fetched
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