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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.17133573G>A
CA2509881268
Y
g.17133573G>T
CA2541134342
Y
g.17133575C>A
CA2532761247
Y
g.17133583T>C
CA337283695
dbSNP
Y
g.17133583T=
CA2470827760
Y
g.17133586C>T
CA1139511141
gnomAD v3
gnomAD v4
Y
g.17133589C>T
CA2565280056
Y
g.17133591T>A
CA1139511142
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133591T=
CA2470827761
Y
g.17133593G>A
CA2470827763
dbSNP
Y
g.17133593G=
CA2470827762
Y
g.17133593G>T
CA337283697
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133594T>C
CA2470827765
dbSNP
Y
g.17133594T=
CA2470827764
Y
g.17133604C=
CA2470827766
Y
g.17133604C>T
CA2470827767
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133605G>A
CA2559872382
Y
g.17133621G>T
CA1139511147
gnomAD v3
gnomAD v4
Y
g.17133638A=
CA2470827768
Y
g.17133638A>T
CA337283704
dbSNP
Y
g.17133645C=
CA2470827769
Y
g.17133645C>G
CA337283706
dbSNP
Y
g.17133646G>A
CA2470827771
dbSNP
Y
g.17133646G=
CA2470827770
Y
g.17133647G>A
CA1139511149
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133647G=
CA2470827772
Y
g.17133648G>A
CA337283713
dbSNP
gnomAD v3
gnomAD v4
Y
g.17133648G=
CA2470827773
Y
g.17133655A>C
CA2525238456
Y
g.17133671G>A
CA1139511155
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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