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:
67822
ClinVar RCV Id:
RCV000058597
ClinVar Variation Id:
2691028
ClinVar RCV Id:
RCV003487111
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001092875.1:p.Val1249Asp |
CA017484
NM_001099405.2:c.3746T>A
CA2697550807
NM_001099405.2:c.3746_3747delinsAT
|