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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.12528898T>C
CA1139278788
gnomAD v3
gnomAD v4
Y
g.12528900C=
CA2470544155
Y
g.12528900C>T
CA2470544156
dbSNP
Y
g.12528905C>A
CA337715739
dbSNP
Y
g.12528905C=
CA2470544157
Y
g.12528905C>T
CA1139278792
gnomAD v3
gnomAD v4
Y
g.12528906G>A
CA1139278797
dbSNP
gnomAD v3
gnomAD v4
Y
g.12528906G=
CA2470544158
Y
g.12528916C=
CA2470544159
Y
g.12528916C>G
CA337715740
dbSNP
gnomAD v3
gnomAD v4
Y
g.12528922C>T
CA2529761624
Y
g.12528926C>A
CA1139278804
gnomAD v3
gnomAD v4
Y
g.12528926C=
CA2470544160
Y
g.12528926C>T
CA2470544161
dbSNP
gnomAD v3
gnomAD v4
Y
g.12528931G>T
CA2589296473
gnomAD v3
gnomAD v4
Y
g.12528938G=
CA2470544162
Y
g.12528938G>T
CA337715741
dbSNP
gnomAD v3
gnomAD v4
Y
g.12528947G=
CA2470544163
Y
g.12528948T>A
CA1139278838
gnomAD v3
gnomAD v4
Y
g.12528948dup
CA1139278808
dbSNP
gnomAD v3
gnomAD v4
Y
g.12528964T>C
CA1139278840
dbSNP
gnomAD v3
gnomAD v4
Y
g.12528964T=
CA2470544164
Y
g.12528982C>A
CA2526463504
Y
g.12528982C=
CA2470544165
Y
g.12528982C>T
CA337715742
dbSNP
gnomAD v3
gnomAD v4
Y
g.12528995G>T
CA2549162158
Y
g.12528996C>A
CA2521677396
Number of alleles fetched
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