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.48488403C>A	CA013848	FBN1	c.3173G>T (p.Gly1058Val) n.1847G>T c.637-13753G>T (n.637-13753G>T)	ClinVar dbSNP
15	g.48488403C>T	CA392327973	FBN1	c.3173G>A (p.Gly1058Asp) n.1847G>A c.637-13753G>A (n.637-13753G>A)	ClinVar dbSNP

Number of alleles fetched