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
16	g.74774639G>T	CA052525	FA2H	c.117C>A (p.Phe39Leu)	ClinVar dbSNP gnomAD v4
16	g.74774639G>C	CA396768381	FA2H	c.117C>G (p.Phe39Leu)	ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
16	g.74774639G>A	CA496690869	FA2H	c.117C>T (p.Phe39=)	dbSNP gnomAD v2 gnomAD v4

Number of alleles fetched