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NOTICE - API Response Change:
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clingenPreferredTitle
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ClinGen Allele Registry
Allele Registry
Pathogenicity Calculator
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
1
g.196677613G>A
CA1305090
CFH
c.565G>A (p.Glu189Lys)
c.427+1548G>A (p.=)
n.626G>A
n.650G>A
dbSNP
ExAC
gnomAD
1
g.196677613G>T
CA257500
CFH
c.565G>T (p.Glu189Ter)
c.427+1548G>T (p.=)
n.626G>T
n.650G>T
ClinVar
dbSNP
Number of alleles fetched
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