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:
CA254923
Gene:
Linked Data
ClinVar Variation Id:
9882
ClinVar RCV Id:
RCV000010559
dbSNP Id:
rs137852558
PubMed:
PMID:15356038
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.634644G>T , CM000686.2:g.634644G>T | GRCh38 |
| NC_000024.9:g.545379G>T , CM000686.1:g.545379G>T | GRCh37 |
| NC_000024.8:g.515379G>T | NCBI36 |