ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
X
g.152869040A>G
CA341814
NSDHL
c.1046A>G (p.Tyr349Cys)
c.1094A>G (p.Tyr365Cys)
ClinVar
dbSNP
X
g.152869040A>C
CA10544898
NSDHL
c.1046A>C (p.Tyr349Ser)
c.1094A>C (p.Tyr365Ser)
dbSNP
ExAC
gnomAD v2
gnomAD v4
Number of alleles fetched
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