ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.68829877_68829890dup
CA10581351
EFNB1
c.101_114dup (p.Ser39ProfsTer12)
ClinVar
dbSNP
X
g.68829877_68829890del
CA2579984143
EFNB1
c.101_114del (p.Pro34LeufsTer?)
ClinVar
dbSNP
Number of alleles fetched
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