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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
10
g.86654812C>G
CA377440823
OPN4
c.29C>G (p.Pro10Arg)
n.145+150C>G
c.-109+150C>G (n.-109+150C>G)
dbSNP
10
g.86654812C>T
CA5583903
OPN4
c.29C>T (p.Pro10Leu)
n.145+150C>T
c.-109+150C>T (n.-109+150C>T)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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