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.173500T>C	CA393994447	HBA2	c.329T>C (p.Leu110Pro) c.233T>C (p.Leu78Pro) n.465T>C	dbSNP gnomAD v3 gnomAD v4
16	g.173500T>G	CA125561	HBA2	c.329T>G (p.Leu110Arg) c.233T>G (p.Leu78Arg) n.465T>G	ClinVar dbSNP

Number of alleles fetched