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
12	g.109814742G>C	CA243479103	TRPV4	c.55C>G (p.Pro19Ala) n.86C>G n.504C>G c.208C>G (p.Pro70Ala)	dbSNP gnomAD v3 gnomAD v4
12	g.109814742G>A	CA117184	TRPV4	c.55C>T (p.Pro19Ser) n.86C>T n.504C>T c.208C>T (p.Pro70Ser)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4

Number of alleles fetched