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:
CA1573442288
Gene:
Linked Data
ClinVar Variation Id:
1004212
ClinVar RCV Id:
RCV003652133
dbSNP Id:
rs532048458
gnomAD v4:
5-112707431-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707431T>G , CM000667.2:g.112707431T>G | GRCh38 |
| NC_000005.9:g.112043128T>G , CM000667.1:g.112043128T>G | GRCh37 |
| NC_000005.8:g.112071027T>G | NCBI36 |
| NG_008481.4:g.19911T>G , LRG_130:g.19911T>G |