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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
1
g.215845994dup
CA259898
USH2A
c.8890dup (p.Trp2964LeufsTer?)
ClinVar
dbSNP
1
g.215845994del
CA423312852
USH2A
c.8890del (p.Trp2964GlyfsTer10)
dbSNP
COSMIC
COSMIC
Number of alleles fetched
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