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:
CA214937
Gene:
Linked Data
ClinVar Variation Id:
42226
dbSNP Id:
rs111033319
PubMed:
PMID:7581383
PMID:9708714
PMID:9778262
PMID:9778273
PMID:9832034
PMID:10094190
PMID:10545608
PMID:11378827
PMID:11919191
PMID:15292920
PMID:15482956
PMID:15833431
PMID:16368237
PMID:17637808
PMID:18398437
PMID:18977334
PMID:19718780
PMID:20064630
ERepo:
CA214937/MONDO:0044970/014
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_012920.1:m.7471dup , J01415.2:m.7471dup | GRCh38 |