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
15	g.48520745G>C	CA011918	FBN1	c.1061C>G (p.Thr354Ser) c.636+16966C>G (n.636+16966C>G)	dbSNP
15	g.48520745G>T	CA392347678	FBN1	c.1061C>A (p.Thr354Asn) c.636+16966C>A (n.636+16966C>A)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched