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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
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
2
g.188988140T>A
CA007064
COL3A1
c.582+6T>A (n.582+6T>A)
ClinVar
dbSNP
2
g.188988140T>C
CA007073
COL3A1
c.582+6T>C (n.582+6T>C)
ClinVar
dbSNP
Number of alleles fetched
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