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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
4
g.99353209T>C
CA800726064
dbSNP
gnomAD v3
gnomAD v4
4
g.99353209T=
CA1479968075
4
g.99353210C=
CA1479968076
4
g.99353210C>G
CA1479968077
dbSNP
4
g.99353211T>C
CA101676764
dbSNP
4
g.99353211T=
CA1479968078
4
g.99353214T>C
CA553104103
dbSNP
gnomAD v2
4
g.99353214T=
CA1479968079
4
g.99353216T>C
CA800726069
dbSNP
gnomAD v3
gnomAD v4
4
g.99353216T=
CA1479968080
4
g.99353217T>A
CA800726074
dbSNP
4
g.99353217T=
CA1479968081
4
g.99353222G>A
CA1065917748
dbSNP
gnomAD v3
gnomAD v4
4
g.99353222G=
CA1479968082
4
g.99353223C=
CA1479968083
4
g.99353223C>G
CA1479968084
dbSNP
4
g.99353225G>C
CA2706759181
dbSNP
4
g.99353231_99353233delinsCAG
CA1479968085
4
g.99353233_99353234del
CA800726079
dbSNP
gnomAD v3
gnomAD v4
4
g.99353233G>C
CA2762793493
4
g.99353234A=
CA1479968086
4
g.99353234A>C
CA1479968087
dbSNP
4
g.99353235del
CA2571646477
4
g.99353237C>A
CA2504508749
4
g.99353238C=
CA1479968088
4
g.99353238C>T
CA800726084
dbSNP
4
g.99353239C=
CA1479968089
4
g.99353239C>T
CA800726092
dbSNP
4
g.99353240C=
CA1479968090
4
g.99353241dup
CA553104104
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.99353247C>A
CA1479968092
dbSNP
4
g.99353247C=
CA1479968091
4
g.99353250A=
CA1479968093
4
g.99353250A>G
CA101676765
dbSNP
4
g.99353251G>A
CA1479968095
dbSNP
4
g.99353251G=
CA1479968094
4
g.99353252C=
CA1479968096
4
g.99353252C>T
CA1065917752
dbSNP
gnomAD v3
gnomAD v4
4
g.99353256G>C
CA800726108
dbSNP
gnomAD v3
gnomAD v4
4
g.99353256G=
CA1479968097
4
g.99353256G>T
CA1065917754
dbSNP
gnomAD v3
gnomAD v4
4
g.99353258G>A
CA1479968099
dbSNP
4
g.99353258G=
CA1479968098
4
g.99353259G>A
CA2602470502
gnomAD v3
gnomAD v4
4
g.99353265T>A
CA2511959296
4
g.99353267_99353268delinsTG
CA1479968100
4
g.99353268del
CA553104105
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.99353269C=
CA1479968101
4
g.99353269C>T
CA553104106
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
4
g.99353271T>C
CA2706759214
dbSNP
Number of alleles fetched
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