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:
CA625300561
Gene:
Linked Data
dbSNP Id:
rs754010324
gnomAD v2:
17-17544589-C-CAA
gnomAD v3:
17-17641275-C-CAA
gnomAD v4:
17-17641275-C-CAA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17641295_17641296dup , CM000679.2:g.17641295_17641296dup | GRCh38 |
| NC_000017.10:g.17544609_17544610dup , CM000679.1:g.17544609_17544610dup | GRCh37 |
| NC_000017.9:g.17485334_17485335dup | NCBI36 |