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.
Linked Data
ClinVar Variation Id:
67350
ClinVar RCV Id:
RCV000058070
ClinVar Variation Id:
943187
ClinVar RCV Id:
RCV001213328
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001191727.1:p.Gly317Cys |
CA006126
NM_001204798.2:c.949G>T
CA1139660307
NM_001204798.2:c.948_949delinsTT
|