ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
5
g.177993041A>G
CA3587536
PROP1
c.349T>C (p.Phe117Leu)
dbSNP
ExAC
gnomAD v2
gnomAD v4
5
g.177993041A>T
CA340724
PROP1
c.349T>A (p.Phe117Ile)
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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