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:
CA2573138758
Gene:
Linked Data
ClinVar Variation Id:
1397271
ClinVar RCV Id:
RCV003534779
dbSNP Id:
rs2149628664
gnomAD v4:
5-112707428-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707428C>T , CM000667.2:g.112707428C>T | GRCh38 |
| NC_000005.9:g.112043125C>T , CM000667.1:g.112043125C>T | GRCh37 |
| NC_000005.8:g.112071024C>T | NCBI36 |
| NG_008481.4:g.19908C>T , LRG_130:g.19908C>T |