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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
2
g.37713399T>C
CA45954313
CDC42EP3
c.-333+6139A>G (n.-333+6139A>G)
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
2
g.37713399T>A
CA1245436043
CDC42EP3
c.-333+6139A>T (n.-333+6139A>T)
dbSNP
Number of alleles fetched
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