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
14	g.23415267C>A	CA389035966	MYH7	c.5287G>T (p.Ala1763Ser)	ClinVar dbSNP gnomAD v4
14	g.23415267C>T	CA015861	MYH7	c.5287G>A (p.Ala1763Thr)	ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched