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.177376T>C	CA125939	HBA1	c.394T>C (p.Ser132Pro) c.298T>C (p.Ser100Pro) n.530T>C	ClinVar dbSNP
16	g.177376T>G	CA393996002	HBA1	c.394T>G (p.Ser132Ala) c.298T>G (p.Ser100Ala) n.530T>G	dbSNP gnomAD v4

Number of alleles fetched