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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
18
g.42708328C>T
CA14572676
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
18
g.42708328C>G
CA2299055468
dbSNP
18
g.42708328C>A
CA2299055467
dbSNP
Number of alleles fetched
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