ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.71224249T>A
CA10577659
GJB1
c.542T>A (p.Val181Glu)
ClinVar
dbSNP
X
g.71224249T>C
CA413503078
GJB1
c.542T>C (p.Val181Ala)
ClinVar
dbSNP
Number of alleles fetched
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