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.48488431C>T	CA049951	FBN1	c.3145G>A (p.Gly1049Ser) n.1819G>A c.637-13781G>A (n.637-13781G>A)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
15	g.48488431C>A	CA013826	FBN1	c.3145G>T (p.Gly1049Cys) n.1819G>T c.637-13781G>T (n.637-13781G>T)	ClinVar dbSNP

Number of alleles fetched