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:
CA731621788
Gene:
Linked Data
dbSNP Id:
rs11290810
gnomAD v3:
1-218532553-G-GTT
gnomAD v4:
1-218532553-G-GTT
MyVariant Identifiers:
chr1:g.218705895_218705896insTT (hg19)
chr1:g.218532553_218532554insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218532565_218532566dup , CM000663.2:g.218532565_218532566dup | GRCh38 |
| NC_000001.10:g.218705907_218705908dup , CM000663.1:g.218705907_218705908dup | GRCh37 |
| NC_000001.9:g.216772530_216772531dup | NCBI36 |