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
2	g.51805635A>C	CA532693837	NRXN1-DT	n.839+43461A>C	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.51805635A>G	CA48247613	NRXN1-DT	n.839+43461A>G	dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2	g.51805635A>T	CA1250316710	NRXN1-DT	n.839+43461A>T	dbSNP

Number of alleles fetched