Chr Mutation (hg38) CAid Gene Transcript Linkouts
14g.74493248delCA342110NPC2c.27del (p.Leu10SerfsTer25)
c.147+783del
ClinVar dbSNP
14g.74493248C=CA2147069941NPC2c.27G= (p.Leu9=)
c.147+783G=
dbSNP dbSNP

Number of alleles fetched