ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
18
g.31519887G>A
CA021523
DSG2
c.166G>A (p.Val56Met)
c.-369G>A (n.-369G>A)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
18
g.31519887G>T
CA402130867
DSG2
c.166G>T (p.Val56Leu)
c.-369G>T (n.-369G>T)
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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