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
16	g.23189642G>C	CA395094964	SCNN1G	c.589G>C (p.Glu197Gln)	ClinVar dbSNP
16	g.23189642G>A	CA119954	SCNN1G	c.589G>A (p.Glu197Lys)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched