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:
CA916083463
Gene:
Linked Data
ClinVar Variation Id:
869219
ClinVar RCV Id:
RCV001078237
dbSNP Id:
rs1596569257
gnomAD v4:
16-172832-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.172832C>A , CM000678.2:g.172832C>A | GRCh38 |
| NC_000016.9:g.222831C>A , CM000678.1:g.222831C>A | GRCh37 |
| NC_000016.8:g.162831C>A | NCBI36 |
| NG_000006.1:g.33695C>A | |
| NG_059186.1:g.1182C>A | |
| NG_059271.1:g.4986C>A |