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:
CA2216587371
Gene:
Linked Data
dbSNP Id:
rs2050382638
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30471128C>T , CM000678.2:g.30471128C>T | GRCh38 |
| NC_000016.9:g.30482449C>T , CM000678.1:g.30482449C>T | GRCh37 |
| NC_000016.8:g.30389950C>T | NCBI36 |