ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.35848144A>G
CA405404427
NPHS1
c.1337T>C (p.Ile446Thr)
n.344T>C
dbSNP
gnomAD v3
gnomAD v4
19
g.35848144A>T
CA250116
NPHS1
c.1337T>A (p.Ile446Asn)
n.344T>A
ClinVar
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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