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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.14130222_14130224del
CA1139325261
dbSNP
gnomAD v3
gnomAD v4
Y
g.14130227del
CA2522482262
Y
g.14130237T>C
CA2542235507
Y
g.14130239G>A
CA1139325266
gnomAD v3
gnomAD v4
Y
g.14130241G=
CA2470638935
Y
g.14130241G>T
CA1139325269
dbSNP
gnomAD v3
gnomAD v4
Y
g.14130247C=
CA2470638936
Y
g.14130247C>T
CA337743222
dbSNP
gnomAD v3
gnomAD v4
Y
g.14130251A=
CA2470638937
Y
g.14130251A>G
CA2470638938
dbSNP
Y
g.14130258C=
CA2470638939
Y
g.14130258C>G
CA1139325274
dbSNP
gnomAD v3
gnomAD v4
Y
g.14130261A>G
CA2824925637
Y
g.14130266T>C
CA1139325279
gnomAD v3
gnomAD v4
Y
g.14130267A>G
CA2824925638
Y
g.14130270A>G
CA1139325280
gnomAD v3
gnomAD v4
Y
g.14130276C>T
CA2552199173
Y
g.14130282C>A
CA2824925639
Y
g.14130291A=
CA2470638940
Y
g.14130291A>C
CA2470638941
dbSNP
Y
g.14130293T>C
CA1139325281
dbSNP
gnomAD v3
gnomAD v4
Y
g.14130293T=
CA2470638942
Y
g.14130305C>A
CA337743223
dbSNP
Y
g.14130305C=
CA2470638943
Y
g.14130313A>G
CA1139325284
gnomAD v3
gnomAD v4
Y
g.14130315A>G
CA1139325289
gnomAD v3
gnomAD v4
Y
g.14130323G=
CA2470638944
Y
g.14130323G>T
CA2470638945
dbSNP
Number of alleles fetched
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