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:
CA2573138762
Gene:
Linked Data
ClinVar Variation Id:
1347547
ClinVar RCV Id:
RCV003653501
dbSNP Id:
rs968227350
gnomAD v4:
5-112707440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707440C>T , CM000667.2:g.112707440C>T | GRCh38 |
| NC_000005.9:g.112043137C>T , CM000667.1:g.112043137C>T | GRCh37 |
| NC_000005.8:g.112071036C>T | NCBI36 |
| NG_008481.4:g.19920C>T , LRG_130:g.19920C>T |