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:
CA1522559617
Gene:
Linked Data
ClinVar Variation Id:
2692088
ClinVar RCV Id:
RCV003494285
dbSNP Id:
rs1158053312
gnomAD v4:
5-1295136-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1295136A>G , CM000667.2:g.1295136A>G | GRCh38 |
| NC_000005.9:g.1295251A>G , CM000667.1:g.1295251A>G | GRCh37 |
| NC_000005.8:g.1348251A>G | NCBI36 |
| NG_009265.1:g.4912T>C , LRG_343:g.4912T>C |