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
17	g.41571482C>A	CA399500755	KRT9	c.511G>T (p.Val171Leu) c.-189G>T (n.-189G>T)	dbSNP
17	g.41571482C>T	CA115913	KRT9	c.511G>A (p.Val171Met) c.-189G>A (n.-189G>A)	ClinVar dbSNP gnomAD v4

Number of alleles fetched