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:
483915
ClinVar RCV Id:
RCV000565067
ClinVar Variation Id:
2119286
ClinVar RCV Id:
RCV003054583
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001280120.1:p.Val222Leu |
CA340134880
NM_001293191.2:c.664G>T
CA340134881
NM_001293191.2:c.664G>C
|