ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.35845538A>G
CA405399593
NPHS1
c.1760T>C (p.Leu587Pro)
dbSNP
gnomAD v2
gnomAD v4
19
g.35845538A>C
CA250141
NPHS1
c.1760T>G (p.Leu587Arg)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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