ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
8
g.27776725dup
CA341791
ESCO2
c.417dup (p.Pro140ThrfsTer8)
n.216dup
n.435dup
n.501dup
ClinVar
dbSNP
gnomAD v4
8
g.27776725del
CA1139769812
ESCO2
c.417del (p.Lys139AsnfsTer6)
n.216del
n.435del
n.501del
ClinVar
dbSNP
Number of alleles fetched
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