ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
16
g.176999G>C
CA126001
HBA1
c.166G>C (p.Val56Leu)
c.70G>C (p.Val24Leu)
n.302G>C
n.135G>C
ClinVar
dbSNP
16
g.176999G>A
CA393995174
HBA1
c.166G>A (p.Val56Ile)
c.70G>A (p.Val24Ile)
n.302G>A
n.135G>A
dbSNP
gnomAD v3
gnomAD v4
Number of alleles fetched
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