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
3	g.10142064C>G	CA70042515	VHL	c.217C>G (p.Gln73Glu)	ClinVar dbSNP gnomAD v4
3	g.10142064C>T	CA357036	VHL	c.217C>T (p.Gln73Ter)	ClinVar dbSNP gnomAD v4 COSMIC

Number of alleles fetched