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:
CA124194
Gene:
Linked Data
ClinVar Variation Id:
14669
dbSNP Id:
rs41295061
gnomAD v2:
10-6114660-C-A
gnomAD v3:
10-6072697-C-A
gnomAD v4:
10-6072697-C-A
PubMed:
PMID:17676041
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.6072697C>A , CM000672.2:g.6072697C>A | GRCh38 |
| NC_000010.10:g.6114660C>A , CM000672.1:g.6114660C>A | GRCh37 |
| NC_000010.9:g.6154666C>A | NCBI36 |