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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
11
g.102954174A>G
CA6251943
MMP13
c.619T>C (p.Trp207Arg)
dbSNP
ExAC
gnomAD v2
11
g.102954174A>C
CA186146
MMP13
c.619T>G (p.Trp207Gly)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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