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.
Canonical Allele Identifier:
CA559271197
Gene:
Linked Data
dbSNP Id:
rs4016330
gnomAD v2:
5-40414956-C-CTTG
gnomAD v3:
5-40414854-C-CTTG
gnomAD v4:
5-40414854-C-CTTG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.40414868_40414870dup , CM000667.2:g.40414868_40414870dup | GRCh38 |
| NC_000005.9:g.40414970_40414972dup , CM000667.1:g.40414970_40414972dup | GRCh37 |
| NC_000005.8:g.40450727_40450729dup | NCBI36 |