ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.71223820T>C
CA413500975
GJB1
c.113T>C (p.Val38Ala)
ClinVar
dbSNP
X
g.71223820T>G
CA338636
GJB1
c.113T>G (p.Val38Gly)
ClinVar
dbSNP
Number of alleles fetched
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