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
4	g.55346393G>C	CA356956602	SRD5A3	c.57G>C (p.Trp19Cys)	dbSNP
4	g.55346393G>T	CA356956603	SRD5A3	c.57G>T (p.Trp19Cys)	dbSNP gnomAD v4
4	g.55346393G>A	CA223758	SRD5A3	c.57G>A (p.Trp19Ter)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched