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:
1702720
ClinVar RCV Id:
RCV002279038
ClinVar Variation Id:
2124458
ClinVar RCV Id:
RCV003057170
Amino-acid Alleles
| HGVS (amino-acid) | Matching Registered Transcripts |
|---|---|
| NP_001005918.1:p.Met833Leu |
CA388030333
NM_001005918.3:c.2497A>T
CA388030341
NM_001005918.3:c.2497A>C
|