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:
CA645372745
Gene:
Linked Data
ClinVar Variation Id:
436975
ClinVar RCV Id:
RCV000501636
dbSNP Id:
rs1553915647
gnomAD v4:
3-169765188-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169765191dup , CM000665.2:g.169765191dup | GRCh38 |
| NC_000003.11:g.169482979dup , CM000665.1:g.169482979dup | GRCh37 |
| NC_000003.10:g.170965673dup | NCBI36 |
| NG_016363.1:g.4872dup , LRG_347:g.4872dup |