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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
4
g.41747479C>A
CA117902
PHOX2B
c.299G>T (p.Arg100Leu)
n.120G>T
ClinVar
dbSNP
4
g.41747479C>T
CA356740397
PHOX2B
c.299G>A (p.Arg100His)
n.120G>A
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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