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:
CA915084329
Gene:
Linked Data
dbSNP Id:
rs1561024756
gnomAD v2:
5-4196312-A-ACGT
gnomAD v3:
5-4196199-A-ACGT
gnomAD v4:
5-4196199-A-ACGT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.4196199_4196200insCGT , CM000667.2:g.4196199_4196200insCGT | GRCh38 |
| NC_000005.9:g.4196312_4196313insCGT , CM000667.1:g.4196312_4196313insCGT | GRCh37 |
| NC_000005.8:g.4249312_4249313insCGT | NCBI36 |