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:
68848
ClinVar RCV Id:
RCV000059813
ClinVar Variation Id:
2585306
ClinVar RCV Id:
RCV003337922
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001340887.1:p.Trp1698Arg |
CA285267
NM_001353958.2:c.5092T>C
CA349068778
NM_001353958.2:c.5092T>A
|