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.38403720C>A	CA412725935	OTC	c.643C>A (p.Leu215Ile) c.393C>A (n.393C>A) c.172-262401C>A (n.172-262401C>A)	dbSNP gnomAD v2 gnomAD v4
X	g.38403720C>T	CA224721	OTC	c.643C>T (p.Leu215Phe) c.393C>T (n.393C>T) c.172-262401C>T (n.172-262401C>T)	ClinVar dbSNP

Number of alleles fetched