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
21	g.43417679G>A	CA199551	SIK1	c.1840C>T (p.Gln614Ter) c.1693C>T (p.Gln565Ter)	ClinVar dbSNP
21	g.43417679G>C	CA410607186	SIK1	c.1840C>G (p.Gln614Glu) c.1693C>G (p.Gln565Glu)	dbSNP gnomAD v4

Number of alleles fetched