ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.71223871C>T
CA340973
GJB1
c.164C>T (p.Thr55Ile)
ClinVar
dbSNP
X
g.71223871C>G
CA413501219
GJB1
c.164C>G (p.Thr55Arg)
ClinVar
dbSNP
Number of alleles fetched
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