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:
1478333
ClinVar RCV Id:
RCV002018982
ClinVar Variation Id:
1757846
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_002682.2:p.Phe241Leu |
CA406974505
NM_002691.4:c.721T>C
CA406974516
NM_002691.4:c.723C>A
CA406974517
NM_002691.4:c.723C>G
|