ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.71223796T>C
CA413500858
GJB1
c.89T>C (p.Ile30Thr)
ClinVar
dbSNP
X
g.71223796T>A
CA255242
GJB1
c.89T>A (p.Ile30Asn)
ClinVar
dbSNP
Number of alleles fetched
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