ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
10
g.127552592G>C
CA5744341
NPS
c.223G>C (p.Val75Leu)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
10
g.127552592G>A
CA5744342
NPS
c.223G>A (p.Val75Ile)
dbSNP
ExAC
gnomAD v2
gnomAD v3
gnomAD v4
Number of alleles fetched
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