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
11	g.5232765C>T	CA124679	HBD	c.349G>A (p.Gly117Arg)	ClinVar dbSNP gnomAD v4
11	g.5232765C>A	CA379276214	HBD	c.349G>T (p.Gly117Trp)	dbSNP gnomAD v2 gnomAD v4
11	g.5232765C>G	CA379276215	HBD	c.349G>C (p.Gly117Arg)	dbSNP

Number of alleles fetched