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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
12
g.53948900A>C
CA13667930
dbSNP
gnomAD v2
gnomAD v3
gnomAD v4
12
g.53948900A>T
CA689991715
dbSNP
12
g.53948900A>G
CA2037174639
dbSNP
Number of alleles fetched
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