ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.71223894G>A
CA341598
GJB1
c.187G>A (p.Val63Ile)
ClinVar
dbSNP
gnomAD v4
X
g.71223894G>T
CA413501347
GJB1
c.187G>T (p.Val63Phe)
ClinVar
dbSNP
Number of alleles fetched
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