WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.7673793G>A | CA397836916 | TP53 | c.827C>T (p.Ala276Val) c.431C>T (p.Ala144Val) c.548C>T (p.Ala183Val) c.806C>T (p.Ala269Val) c.782+388C>T (n.782+388C>T) c.710C>T (p.Ala237Val) c.350C>T (p.Ala117Val) c.794C>T (p.Ala265Val) | dbSNP COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673793G>T | CA10580916 | TP53 | c.827C>A (p.Ala276Asp) c.431C>A (p.Ala144Asp) c.548C>A (p.Ala183Asp) c.806C>A (p.Ala269Asp) c.782+388C>A (n.782+388C>A) c.710C>A (p.Ala237Asp) c.350C>A (p.Ala117Asp) c.794C>A (p.Ala265Asp) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC COSMIC COSMIC |
| 17 | g.7673793G>C | CA000436 | TP53 | c.827C>G (p.Ala276Gly) c.431C>G (p.Ala144Gly) c.548C>G (p.Ala183Gly) c.806C>G (p.Ala269Gly) c.782+388C>G (n.782+388C>G) c.710C>G (p.Ala237Gly) c.350C>G (p.Ala117Gly) c.794C>G (p.Ala265Gly) | ClinVar dbSNP COSMIC COSMIC COSMIC COSMIC |