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:
865468
ClinVar RCV Id:
RCV001072894
ClinVar Variation Id:
868462
ClinVar RCV Id:
RCV001077369
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_009230.2:p.Cys675Ser |
CA10590646
NM_007299.4:c.2024G>C
CA10590652
NM_007299.4:c.2023T>A
|