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:
CA657570939
Gene:
Linked Data
dbSNP Id:
rs1984798703
gnomAD v3:
20-22587313-G-A
gnomAD v4:
20-22587313-G-A
COSMIC:
COSN19132880
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.22587313G>A , CM000682.2:g.22587313G>A | GRCh38 |
| NC_000020.10:g.22567951G>A , CM000682.1:g.22567951G>A | GRCh37 |
| NC_000020.9:g.22515951G>A | NCBI36 |