Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Chr	Mutation (hg38)	CAid	Gene	Transcript	Linkouts
X	g.70033430C>G	CA413448825	EDA	c.826C>G (p.Arg276Gly) c.817C>G (p.Arg273Gly) c.430C>G (p.Arg144Gly)	ClinVar dbSNP gnomAD v3 gnomAD v4
X	g.70033430C>T	CA260052	EDA	c.826C>T (p.Arg276Cys) c.817C>T (p.Arg273Cys) c.430C>T (p.Arg144Cys)	ClinVar dbSNP

Number of alleles fetched