ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.47836381A>G
CA406629839
CRX
c.239A>G (p.Glu80Gly)
c.100+1838A>G (n.100+1838A>G)
ClinVar
dbSNP
19
g.47836381A>C
CA118789
CRX
c.239A>C (p.Glu80Ala)
c.100+1838A>C (n.100+1838A>C)
ClinVar
dbSNP
Number of alleles fetched
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