Chr Mutation (hg38) CAid Gene Transcript Linkouts
17g.42536414T>CCA115052NAGLUc.142T>C (p.Phe48Leu)
ClinVar dbSNP gnomAD v4
17g.42536414T=CA2260526733NAGLUc.142T= (p.Phe48=)
dbSNP

Number of alleles fetched