ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
13
g.20189451C>G
CA257682
GJB2
c.131G>C (p.Trp44Ser)
ClinVar
dbSNP
13
g.20189451C>T
CA274012
GJB2
c.131G>A (p.Trp44Ter)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Showing alleles 1 - 2 from query results
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