ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.68838684C>G
CA413437403
EFNB1
c.196C>G (p.Arg66Gly)
dbSNP
gnomAD v3
gnomAD v4
X
g.68838684C>T
CA121642
EFNB1
c.196C>T (p.Arg66Ter)
ClinVar
dbSNP
Number of alleles fetched
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