Allele Registry

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
14	g.67726983C>A	CA252085	GPHN,RDH12	c.451C>A (p.His151Asn) c.1313-8212C>A (n.1313-8212C>A)	ClinVar dbSNP
14	g.67726983C>G	CA252087	GPHN,RDH12	c.451C>G (p.His151Asp) c.1313-8212C>G (n.1313-8212C>G)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4

Showing alleles 1 - 2 from query results