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:
CA1932346156
Gene:
Linked Data
dbSNP Id:
rs1794363993
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.101750680T>C , CM000672.2:g.101750680T>C | GRCh38 |
| NC_000010.10:g.103510437T>C , CM000672.1:g.103510437T>C | GRCh37 |
| NC_000010.9:g.103500427T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XR_946255.1:n.217-6463A>G | ||
| XR_946255.2:n.217-6463A>G |