Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.46380281G>ACA118291EPAS1c.1609G>A (p.Gly537Arg)
n.582G>A
c.1648G>A (p.Gly550Arg)
 ClinVar dbSNP gnomAD v4
2g.46380281G>TCA118290EPAS1c.1609G>T (p.Gly537Trp)
n.582G>T
c.1648G>T (p.Gly550Trp)
 ClinVar dbSNP

Number of alleles fetched