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
1	g.183125412T>A	CA343671728	LAMC1	c.2663T>A (p.Leu888Gln) n.225T>A	dbSNP
1	g.183125412T>G	CA343671743	LAMC1	c.2663T>G (p.Leu888Arg) n.225T>G	dbSNP
1	g.183125412T>C	CA1281433	LAMC1	c.2663T>C (p.Leu888Pro) n.225T>C	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched