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
19	g.35848144A>G	CA405404427	NPHS1	c.1337T>C (p.Ile446Thr) n.344T>C	dbSNP gnomAD v3 gnomAD v4
19	g.35848144A>T	CA250116	NPHS1	c.1337T>A (p.Ile446Asn) n.344T>A	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched