Chr Mutation (hg38) CAid Gene Transcript Linkouts
12g.51794620G>CCA155095SCN8Ac.4774G>C (p.Val1592Leu)
c.2838G>C
c.4651G>C (p.Val1551Leu)
c.4807G>C (p.Val1603Leu)
ClinVar dbSNP
12g.51794620G>ACA384879341SCN8Ac.4774G>A (p.Val1592Ile)
c.2838G>A
c.4651G>A (p.Val1551Ile)
c.4807G>A (p.Val1603Ile)
ClinVar dbSNP

Number of alleles fetched