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
12	g.6013544G>A	CA114143	VWF	c.5557C>T (p.Arg1853Ter) n.421-19610C>T	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
12	g.6013544G>T	CA478100493	VWF	c.5557C>A (p.Arg1853=) n.421-19610C>A	dbSNP gnomAD v2

Number of alleles fetched