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:
CA1573442299
Gene:
Linked Data
ClinVar Variation Id:
1034937
ClinVar RCV Id:
RCV003770879
dbSNP Id:
rs1750561418
gnomAD v4:
5-112707439-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707439G>A , CM000667.2:g.112707439G>A | GRCh38 |
| NC_000005.9:g.112043136G>A , CM000667.1:g.112043136G>A | GRCh37 |
| NC_000005.8:g.112071035G>A | NCBI36 |
| NG_008481.4:g.19919G>A , LRG_130:g.19919G>A |