UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Canonical Allele Identifier:
CA915947980
Gene:
Linked Data
ClinVar Variation Id:
811028
ClinVar RCV Id:
RCV001000576
dbSNP Id:
rs1589890997
gnomAD v4:
11-5225390-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225390C>A , CM000673.2:g.5225390C>A | GRCh38 |
| NC_000011.9:g.5246620C>A , CM000673.1:g.5246620C>A | GRCh37 |
| NC_000011.8:g.5203196C>A | NCBI36 |
| NG_000007.3:g.72226G>T | |
| NG_059281.1:g.6682G>T |