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:
CA2573138759
Gene:
Linked Data
ClinVar Variation Id:
1391789
ClinVar RCV Id:
RCV003772696
dbSNP Id:
rs2149628674
gnomAD v4:
5-112707430-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707430A>G , CM000667.2:g.112707430A>G | GRCh38 |
| NC_000005.9:g.112043127A>G , CM000667.1:g.112043127A>G | GRCh37 |
| NC_000005.8:g.112071026A>G | NCBI36 |
| NG_008481.4:g.19910A>G , LRG_130:g.19910A>G |