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.176760G>T	CA276416461	HBA1	c.44G>T (p.Trp15Leu) c.-4G>T (n.-4G>T) n.63G>T n.13G>T	dbSNP
16	g.176760G>A	CA7770227	HBA1	c.44G>A (p.Trp15Ter) c.-4G>A (n.-4G>A) n.63G>A n.13G>A	dbSNP ExAC gnomAD v2 gnomAD v4

Number of alleles fetched