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
8	g.24956493G>T	CA217534	NEFL	c.23C>A (p.Pro8Gln) n.229C>A	ClinVar dbSNP gnomAD v4
8	g.24956493G>A	CA217537	NEFL	c.23C>T (p.Pro8Leu) n.229C>T	ClinVar dbSNP gnomAD v4
8	g.24956493G>C	CA217536	NEFL	c.23C>G (p.Pro8Arg) n.229C>G	ClinVar dbSNP

Number of alleles fetched