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:
868050
ClinVar RCV Id:
RCV001076868
ClinVar Variation Id:
868416
ClinVar RCV Id:
RCV001077313
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_009228.2:p.Thr1752Ser |
CA10590682
NM_007297.4:c.5255C>G
CA10590684
NM_007297.4:c.5254A>T
|