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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.227248459A>G
CA2146171
COL4A3,MFF-DT
c.485A>G (p.Glu162Gly)
n.1593-10285T>C
n.623A>G
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
2
g.227248459A>T
CA350863488
COL4A3,MFF-DT
c.485A>T (p.Glu162Val)
n.1593-10285T>A
n.623A>T
dbSNP
Number of alleles fetched
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