ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.100407799C>T
CA414008058
PCDH19
c.799G>A (p.Glu267Lys)
ClinVar
dbSNP
X
g.100407799C>A
CA16608690
PCDH19
c.799G>T (p.Glu267Ter)
ClinVar
dbSNP
Number of alleles fetched
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