ClinGen Allele Registry
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Chr
Mutation (hg38)
CAid
Gene
Transcript
Linkouts
19
g.855799G>T
CA2499225649
ELANE
c.597+5G>T (n.597+5G>T)
ClinVar
dbSNP
19
g.855799G>A
CA10584621
ELANE
c.597+5G>A (n.597+5G>A)
ClinVar
dbSNP
gnomAD v4
Number of alleles fetched
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