Chr Mutation (hg38) CAid Gene Transcript Linkouts
11g.72243790G>ACA253980PHOX2Ac.215C>T (p.Ala72Val)
n.85+1790C>T
ClinVar dbSNP gnomAD v4
11g.72243790G=CA1981904762PHOX2Ac.215C= (p.Ala72=)
n.85+1790C=
dbSNP

Number of alleles fetched