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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
Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
11
g.2179933T>G
CA1948023141
dbSNP
11
g.2179933T>A
CA674610404
dbSNP
gnomAD v3
gnomAD v4
11
g.2179933T>C
CA13370153
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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